{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,24]],"date-time":"2026-10-24T20:12:51Z","timestamp":1792872771809,"version":"4.5.0"},"reference-count":161,"publisher":"Springer Science and Business Media LLC","issue":"6","license":[{"start":{"date-parts":[[2023,9,20]],"date-time":"2023-09-20T00:00:00Z","timestamp":1695168000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2023,9,20]],"date-time":"2023-09-20T00:00:00Z","timestamp":1695168000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"name":"Universit\u00e0 degli Studi di Bari Aldo Moro"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Pediatr Nephrol"],"published-print":{"date-parts":[[2024,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Focal segmental glomerulosclerosis (FSGS) is a complex disease which describes different kinds of kidney defects, not exclusively linked with podocyte defects. Since nephrin mutation was first described in association with early-onset nephrotic syndrome (NS), many advancements have been made in understanding genetic patterns associated with FSGS. New genetic causes of FSGS have been discovered, displaying unexpected genotypes, and recognizing possible site of damage. Many recent large-scale sequencing analyses on patients affected by idiopathic chronic kidney disease (CKD), kidney failure (KF) of unknown origin, or classified as FSGS, have revealed collagen alpha IV genes, as one of the most frequent sites of pathogenic mutations. Also, recent interest in complex and systemic lysosomal storage diseases, such as Fabry disease, has highlighted <jats:italic>GLA<\/jats:italic> mutations as possible causes of FSGS. Tubulointerstitial disease, recently classified by KDIGO based on genetic subtypes, when associated with <jats:italic>UMOD<\/jats:italic> variants, may phenotypically gain FSGS features, as well as ciliopathy genes or others, otherwise leading to completely different phenotypes, but found carrying pathogenic variants with associated FSGS phenotype. Thus, glomerulosclerosis may conceal different heterogeneous conditions. When a kidney biopsy is performed, the principal objective is to provide an accurate diagnosis. The broad spectrum of phenotypic expression and genetic complexity is demonstrating that a combined path of management needs to be applied. Genetic investigation should not be reserved only to selected cases, but rather part of medical management, integrating with clinical and renal pathology records. FSGS heterogeneity should be interpreted as an interesting opportunity to discover new pathways of CKD, requiring prompt genotype\u2013phenotype correlation. In this review, we aim to highlight how FSGS represents a peculiar kidney condition, demanding multidisciplinary management, and\u00a0in which genetic analysis may solve some otherwise unrevealed idiopathic cases. Unfortunately there is not a uniform correlation between specific mutations and FSGS morphological classes, as the same variants may be identified in familial cases or sporadic FSGS\/NS or manifest a variable spectrum of the same disease. These non-specific features make diagnosis challenging. The complexity of FSGS genotypes requires new directions. Old morphological classification does not provide much information about the responsible cause of disease and misdiagnoses may expose patients to immunosuppressive therapy side effects, mistaken genetic counseling, and misguided kidney transplant programs.<\/jats:p>","DOI":"10.1007\/s00467-023-06046-1","type":"journal-article","created":{"date-parts":[[2023,9,20]],"date-time":"2023-09-20T15:04:06Z","timestamp":1695222246000},"page":"1685-1707","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["Hidden genetics behind glomerular scars: an opportunity to understand the heterogeneity of focal segmental glomerulosclerosis?"],"prefix":"10.1007","volume":"39","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7037-7773","authenticated-orcid":false,"given":"Adele","family":"Mitrotti","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marica","family":"Giliberti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vincenzo","family":"Di Leo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ighli","family":"di Bari","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paola","family":"Pontrelli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Loreto","family":"Gesualdo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2023,9,20]]},"reference":[{"issue":"2","key":"6046_CR1","doi-asserted-by":"publisher","first-page":"172","DOI":"10.1053\/snep.2003.50025","volume":"23","author":"C Kitiyakara","year":"2003","unstructured":"Kitiyakara C, Kopp JB, Eggers P (2003) Trends in the epidemiology of focal segmental glomerulosclerosis. Semin Nephrol 23:172\u2013182","journal-title":"Semin Nephrol"},{"key":"6046_CR2","doi-asserted-by":"publisher","first-page":"661","DOI":"10.1093\/ndt\/gfx189","volume":"33","author":"MM O'Shaughnessy","year":"2018","unstructured":"O\u2019Shaughnessy MM, Hogan SL, Thompson BD et al (2018) Glomerular disease frequencies by race, sex and region: results from the International Kidney Biopsy Survey. Nephrol Dial Transplant 33:661\u2013669","journal-title":"Nephrol Dial Transplant"},{"issue":"3","key":"6046_CR3","doi-asserted-by":"publisher","first-page":"898","DOI":"10.1111\/j.1523-1755.2004.00833.x","volume":"66","author":"F Rivera","year":"2004","unstructured":"Rivera F, Lopez-Gomez JM, Perez-Garcia R et al (2004) Clinicopathologic correlations of renal pathology in Spain. Kidney Int 66:898\u2013904","journal-title":"Kidney Int"},{"key":"6046_CR4","doi-asserted-by":"publisher","first-page":"2251","DOI":"10.1093\/ndt\/gfu239","volume":"29","author":"B Jin","year":"2014","unstructured":"Jin B, Zeng C, Ge Y et al (2014) The spectrum of biopsy-proven kidney diseases in elderly Chinese patients. Nephrol Dial Transplant 29:2251\u20132259","journal-title":"Nephrol Dial Transplant"},{"key":"6046_CR5","first-page":"233","volume":"60","author":"JA Schwimmer","year":"2003","unstructured":"Schwimmer JA, Markowitz GS, Valeri AM et al (2003) Secondary focal segmental glomerulosclerosis in non-obese patients with increased muscle mass. Clin Nephrol 60:233\u2013241","journal-title":"Clin Nephrol"},{"key":"6046_CR6","doi-asserted-by":"publisher","first-page":"155","DOI":"10.1038\/ki.1995.279","volume":"48","author":"A Remuzzi","year":"1995","unstructured":"Remuzzi A, Mazerska M, Gephardt GN et al (1995) Three-dimensional analysis of glomerular morphology in patients with subtotal nephrectomy. Kidney Int 48:155\u2013162","journal-title":"Kidney Int"},{"key":"6046_CR7","unstructured":"Henke F Handbuch der speziellen pathologischen Anatomie und Histologie. J. Springer, Berlin 1924. VOL. II."},{"key":"6046_CR8","doi-asserted-by":"publisher","first-page":"243","DOI":"10.1097\/MNH.0b013e32835200df","volume":"21","author":"VD D'Agati","year":"2012","unstructured":"D\u2019Agati VD (2012) Pathobiology of focal segmental glomerulosclerosis: new developments. Curr Opin Nephrol Hypertens 21:243\u2013250","journal-title":"Curr Opin Nephrol Hypertens"},{"issue":"12","key":"6046_CR9","doi-asserted-by":"publisher","first-page":"3016","DOI":"10.1097\/01.ASN.0000039569.34360.5E","volume":"13","author":"MR Pollak","year":"2002","unstructured":"Pollak MR (2002) Inherited podocytopathies: FSGS and nephrotic syndrome from a genetic viewpoint. J Am Soc Nephrol 13:3016\u20133023","journal-title":"J Am Soc Nephrol"},{"key":"6046_CR10","doi-asserted-by":"publisher","first-page":"2219","DOI":"10.1681\/ASN.2007121365","volume":"19","author":"DHT IJpelaar","year":"2008","unstructured":"IJpelaar DHT, Farris AB, Goemaere N et al (2008) Fidelity and evolution of recurrent FSGS in renal allografts. J Am Soc Nephrol 19:2219\u20132224","journal-title":"J Am Soc Nephrol"},{"key":"6046_CR11","doi-asserted-by":"publisher","first-page":"36","DOI":"10.1007\/s11906-020-1033-9","volume":"22","author":"V Di Leo","year":"2020","unstructured":"Di Leo V, Capaccio F, Gesualdo L (2020) Preeclampsia and Glomerulonephritis: A Bidirectional Association. Curr Hypertens Rep 22:36","journal-title":"Curr Hypertens Rep"},{"key":"6046_CR12","first-page":"173","volume":"100","author":"AR Rich","year":"1957","unstructured":"Rich AR (1957) A hitherto undescribed vulnerability of the juxtamedullary glomeruli in lipoid nephrosis. Bull Johns Hopkins Hosp 100:173\u2013186","journal-title":"Bull Johns Hopkins Hosp"},{"key":"6046_CR13","doi-asserted-by":"publisher","first-page":"626","DOI":"10.2215\/CJN.05810513","volume":"9","author":"B Bose","year":"2014","unstructured":"Bose B, Cattran D, Toronto Glomerulonephritis R (2014) Glomerular diseases: FSGS. Clin J Am Soc Nephrol 9:626\u2013632","journal-title":"Clin J Am Soc Nephrol"},{"key":"6046_CR14","doi-asserted-by":"publisher","first-page":"375","DOI":"10.1093\/ndt\/gfu035","volume":"30","author":"S Sethi","year":"2015","unstructured":"Sethi S, Glassock RJ, Fervenza FC (2015) Focal segmental glomerulosclerosis: towards a better understanding for the practicing nephrologist. Nephrol Dial Transplant 30:375\u2013384","journal-title":"Nephrol Dial Transplant"},{"key":"6046_CR15","doi-asserted-by":"crossref","unstructured":"Li G, Kidd J, Li PL (2020) Podocyte lysosome dysfunction in chronic glomerular diseases. Int J Mol Sci 21:1559","DOI":"10.3390\/ijms21051559"},{"key":"6046_CR16","doi-asserted-by":"publisher","first-page":"747","DOI":"10.1007\/s00467-020-04476-9","volume":"36","author":"JM Lee","year":"2021","unstructured":"Lee JM, Kronbichler A, Shin JI et al (2021) Current understandings in treating children with steroid-resistant nephrotic syndrome. Pediatr Nephrol 36:747\u2013761","journal-title":"Pediatr Nephrol"},{"key":"6046_CR17","doi-asserted-by":"publisher","first-page":"350","DOI":"10.1007\/s00467-006-0357-2","volume":"22","author":"K Reidy","year":"2007","unstructured":"Reidy K, Kaskel FJ (2007) Pathophysiology of focal segmental glomerulosclerosis. Pediatr Nephrol 22:350\u2013354","journal-title":"Pediatr Nephrol"},{"key":"6046_CR18","doi-asserted-by":"publisher","first-page":"270","DOI":"10.1038\/s41598-019-57149-5","volume":"10","author":"C Nagano","year":"2020","unstructured":"Nagano C, Yamamura T, Horinouchi T et al (2020) Comprehensive genetic diagnosis of Japanese patients with severe proteinuria. Sci Rep 10:270","journal-title":"Sci Rep"},{"key":"6046_CR19","doi-asserted-by":"publisher","first-page":"53","DOI":"10.2215\/CJN.04120417","volume":"13","author":"JK Warejko","year":"2018","unstructured":"Warejko JK, Tan W, Daga A et al (2018) Whole exome sequencing of patients with steroid-resistant nephrotic syndrome. Clin J Am Soc Nephrol 13:53\u201362","journal-title":"Clin J Am Soc Nephrol"},{"key":"6046_CR20","doi-asserted-by":"crossref","unstructured":"Park E, Lee C, Kim NKD et al (2020) Genetic study in korean pediatric patients with steroid-resistant nephrotic syndrome or focal segmental glomerulosclerosis. J Clin Med 9:2013","DOI":"10.3390\/jcm9062013"},{"key":"6046_CR21","doi-asserted-by":"publisher","first-page":"1139","DOI":"10.2215\/CJN.05260610","volume":"6","author":"S Santin","year":"2011","unstructured":"Santin S, Bullich G, Tazon-Vega B et al (2011) Clinical utility of genetic testing in children and adults with steroid-resistant nephrotic syndrome. Clin J Am Soc Nephrol 6:1139\u20131148","journal-title":"Clin J Am Soc Nephrol"},{"key":"6046_CR22","doi-asserted-by":"publisher","first-page":"519","DOI":"10.1016\/j.ekir.2019.12.016","volume":"5","author":"J Chun","year":"2020","unstructured":"Chun J, Wang M, Wilkins MS et al (2020) Autosomal dominant tubulointerstitial kidney disease-uromodulin misclassified as focal segmental glomerulosclerosis or hereditary glomerular disease. Kidney Int Rep 5:519\u2013529","journal-title":"Kidney Int Rep"},{"issue":"2","key":"6046_CR23","doi-asserted-by":"publisher","first-page":"195","DOI":"10.1007\/s00467-017-3838-6","volume":"34","author":"R Preston","year":"2019","unstructured":"Preston R, Stuart HM, Lennon R (2019) Genetic testing in steroid-resistant nephrotic syndrome: why, who, when and how? Pediatr Nephrol 34:195\u2013210","journal-title":"Pediatr Nephrol"},{"key":"6046_CR24","doi-asserted-by":"publisher","unstructured":"Kim JM, Wu H, Green G, Winkler CA, Kopp JB, Miner JH, Unanue ER, Shaw AS. (2003) CD2-associated protein haploinsufficiency is linked to glomerular disease susceptibility. Science. 300(5623):1298-300. https:\/\/doi.org\/10.1126\/science.1081068","DOI":"10.1126\/science.1081068"},{"key":"6046_CR25","doi-asserted-by":"publisher","first-page":"575","DOI":"10.1016\/S1097-2765(00)80057-X","volume":"1","author":"M Kestila","year":"1998","unstructured":"Kestila M, Lenkkeri U, Mannikko M et al (1998) Positionally cloned gene for a novel glomerular protein--nephrin--is mutated in congenital nephrotic syndrome. Mol Cell 1:575\u2013582","journal-title":"Mol Cell"},{"key":"6046_CR26","doi-asserted-by":"publisher","first-page":"349","DOI":"10.1038\/74166","volume":"24","author":"N Boute","year":"2000","unstructured":"Boute N, Gribouval O, Roselli S et al (2000) NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome. Nat Genet 24:349\u2013354","journal-title":"Nat Genet"},{"issue":"12","key":"6046_CR27","doi-asserted-by":"publisher","first-page":"1397","DOI":"10.1038\/ng1918","volume":"38","author":"B Hinkes","year":"2006","unstructured":"Hinkes B, Wiggins RC, Gbadegesin R et al (2006) Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible. Nat Genet 38(12):1397\u20131405","journal-title":"Nat Genet"},{"key":"6046_CR28","doi-asserted-by":"publisher","first-page":"251","DOI":"10.1038\/73456","volume":"24","author":"JM Kaplan","year":"2000","unstructured":"Kaplan JM, Kim SH, North KN et al (2000) Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis. Nat Genet 24:251\u2013256","journal-title":"Nat Genet"},{"key":"6046_CR29","unstructured":"Lipska-Zietkiewicz BS (1993) In: Adam MP et al (eds) Genetic steroid-resistant nephrotic syndrome overview, in GeneReviews((R)), Seattle (WA)"},{"issue":"8","key":"6046_CR30","doi-asserted-by":"publisher","first-page":"3243","DOI":"10.1172\/JCI69134","volume":"123","author":"HY Gee","year":"2013","unstructured":"Gee HY, Saisawat P, Ashraf S et al (2013) ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling. J Clin Invest 123:3243\u20133253","journal-title":"J Clin Invest"},{"key":"6046_CR31","doi-asserted-by":"publisher","first-page":"72","DOI":"10.1038\/ng.505","volume":"42","author":"EJ Brown","year":"2010","unstructured":"Brown EJ, Schlondorff JS, Becker DJ et al (2010) Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis. Nat Genet 42:72\u201376","journal-title":"Nat Genet"},{"key":"6046_CR32","doi-asserted-by":"publisher","first-page":"2375","DOI":"10.1172\/JCI79504","volume":"125","author":"HY Gee","year":"2015","unstructured":"Gee HY, Zhang F, Ashraf S et al (2015) KANK deficiency leads to podocyte dysfunction and nephrotic syndrome. J Clin Invest 125:2375\u20132384","journal-title":"J Clin Invest"},{"key":"6046_CR33","doi-asserted-by":"publisher","first-page":"295","DOI":"10.1056\/NEJMoa1101273","volume":"365","author":"C Mele","year":"2011","unstructured":"Mele C, Iatropoulos P, Donadelli R et al (2011) MYO1E mutations and childhood familial focal segmental glomerulosclerosis. N Engl J Med 365:295\u2013306","journal-title":"N Engl J Med"},{"key":"6046_CR34","doi-asserted-by":"publisher","first-page":"1801","DOI":"10.1126\/science.1106215","volume":"308","author":"MP Winn","year":"2005","unstructured":"Winn MP, Conlon PJ, Lynn KL et al (2005) A mutation in the TRPC6 cation channel causes familial focal segmental glomerulosclerosis. Science 308:1801\u20131804","journal-title":"Science"},{"key":"6046_CR35","doi-asserted-by":"publisher","first-page":"884","DOI":"10.1016\/j.ajhg.2014.04.010","volume":"94","author":"HY Gee","year":"2014","unstructured":"Gee HY, Ashraf S, Wan X et al (2014) Mutations in EMP2 cause childhood-onset nephrotic syndrome. Am J Hum Genet 94:884\u2013890","journal-title":"Am J Hum Genet"},{"key":"6046_CR36","doi-asserted-by":"publisher","first-page":"1942","DOI":"10.1681\/ASN.2013070686","volume":"25","author":"M Barua","year":"2014","unstructured":"Barua M, Stellacci E, Stella L et al (2014) Mutations in PAX2 associate with adult-onset FSGS. J Am Soc Nephrol 25:1942\u20131953","journal-title":"J Am Soc Nephrol"},{"key":"6046_CR37","doi-asserted-by":"publisher","first-page":"55","DOI":"10.3345\/kjp.2017.60.3.55","volume":"60","author":"TS Ha","year":"2017","unstructured":"Ha TS (2017) Genetics of hereditary nephrotic syndrome: a clinical review. Korean J Pediatr 60:55\u201363","journal-title":"Korean J Pediatr"},{"issue":"16","key":"6046_CR38","doi-asserted-by":"publisher","first-page":"1508","DOI":"10.1056\/NEJMoa1110813","volume":"366","author":"C Has","year":"2012","unstructured":"Has C, Sparta G, Kiritsi D et al (2012) Integrin alpha3 mutations with kidney, lung, and skin disease. N Engl J Med 366:1508\u20131514","journal-title":"N Engl J Med"},{"key":"6046_CR39","doi-asserted-by":"publisher","first-page":"5179","DOI":"10.1172\/JCI69000","volume":"123","author":"S Ashraf","year":"2013","unstructured":"Ashraf S, Gee HY, Woerner S et al (2013) ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption. J Clin Invest 123:5179\u20135189","journal-title":"J Clin Invest"},{"key":"6046_CR40","doi-asserted-by":"publisher","first-page":"2773","DOI":"10.1681\/ASN.2006080833","volume":"18","author":"F Diomedi-Camassei","year":"2007","unstructured":"Diomedi-Camassei F, Di Giandomenico S, Santorelli FM et al (2007) COQ2 nephropathy: a newly described inherited mitochondriopathy with primary renal involvement. J Am Soc Nephrol 18:2773\u20132780","journal-title":"J Am Soc Nephrol"},{"key":"6046_CR41","doi-asserted-by":"publisher","first-page":"2013","DOI":"10.1172\/JCI45693","volume":"121","author":"SF Heeringa","year":"2011","unstructured":"Heeringa SF, Chernin G, Chaki M et al (2011) COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness. J Clin Invest 121:2013\u20132024","journal-title":"J Clin Invest"},{"key":"6046_CR42","doi-asserted-by":"publisher","first-page":"1125","DOI":"10.1086\/510023","volume":"79","author":"LC Lopez","year":"2006","unstructured":"Lopez LC, Schuelke M, Quinzii CM et al (2006) Leigh syndrome with nephropathy and CoQ10 deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) mutations. Am J Hum Genet 79:1125\u20131129","journal-title":"Am J Hum Genet"},{"key":"6046_CR43","doi-asserted-by":"publisher","first-page":"468","DOI":"10.1038\/ki.2015.317","volume":"89","author":"DA Braun","year":"2016","unstructured":"Braun DA, Schueler M, Halbritter J et al (2016) Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity. Kidney Int 89:468\u2013475","journal-title":"Kidney Int"},{"key":"6046_CR44","doi-asserted-by":"publisher","first-page":"215","DOI":"10.1038\/ng821","volume":"30","author":"CF Boerkoel","year":"2002","unstructured":"Boerkoel CF, Takashima H, John J et al (2002) Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia. Nat Genet 30:215\u2013220","journal-title":"Nat Genet"},{"key":"6046_CR45","doi-asserted-by":"crossref","unstructured":"Becherucci F, Landini S, Cirillo L et al (2020) Sound alike: phenocopies in steroid-resistant nephrotic syndrome. Int J Environ Res Public Health 17:8363","DOI":"10.3390\/ijerph17228363"},{"key":"6046_CR46","doi-asserted-by":"publisher","first-page":"2123","DOI":"10.1681\/ASN.2017121312","volume":"29","author":"T Hermle","year":"2018","unstructured":"Hermle T, Schneider R, Schapiro D et al (2018) GAPVD1 and ANKFY1 Mutations Implicate RAB5 Regulation in Nephrotic Syndrome. J Am Soc Nephrol 29:2123\u20132138","journal-title":"J Am Soc Nephrol"},{"key":"6046_CR47","doi-asserted-by":"publisher","first-page":"1621","DOI":"10.1007\/s00467-010-1495-0","volume":"25","author":"G Benoit","year":"2010","unstructured":"Benoit G, Machuca E, Antignac C (2010) Hereditary nephrotic syndrome: a systematic approach for genetic testing and a review of associated podocyte gene mutations. Pediatr Nephrol 25:1621\u20131632","journal-title":"Pediatr Nephrol"},{"key":"6046_CR48","doi-asserted-by":"publisher","first-page":"844","DOI":"10.1111\/apa.12317","volume":"102","author":"S Joshi","year":"2013","unstructured":"Joshi S, Andersen R, Jespersen B et al (2013) Genetics of steroid-resistant nephrotic syndrome: a review of mutation spectrum and suggested approach for genetic testing. Acta Paediatr 102:844\u2013856","journal-title":"Acta Paediatr"},{"key":"6046_CR49","doi-asserted-by":"publisher","first-page":"51","DOI":"10.1007\/s00467-014-2857-9","volume":"30","author":"MG Sampson","year":"2015","unstructured":"Sampson MG, Hodgin JB, Kretzler M (2015) Defining nephrotic syndrome from an integrative genomics perspective. Pediatr Nephrol 30:51\u201363 (quiz 59)","journal-title":"Pediatr Nephrol"},{"key":"6046_CR50","doi-asserted-by":"publisher","first-page":"5463","DOI":"10.1073\/pnas.74.12.5463","volume":"74","author":"F Sanger","year":"1977","unstructured":"Sanger F, Nicklen S, Coulson AR (1977) DNA sequencing with chain-terminating inhibitors. Proc Natl Acad Sci U S A 74:5463\u20135467","journal-title":"Proc Natl Acad Sci U S A"},{"key":"6046_CR51","doi-asserted-by":"publisher","first-page":"1721","DOI":"10.1002\/humu.22450","volume":"34","author":"K Neveling","year":"2013","unstructured":"Neveling K, Feenstra I, Gilissen C et al (2013) A post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases. Hum Mutat 34:1721\u20131726","journal-title":"Hum Mutat"},{"key":"6046_CR52","doi-asserted-by":"publisher","first-page":"687","DOI":"10.1093\/ndt\/gfab019","volume":"37","author":"A Domingo-Gallego","year":"2022","unstructured":"Domingo-Gallego A, Pybus M, Bullich G et al (2022) Clinical utility of genetic testing in early-onset kidney disease: seven genes are the main players. Nephrol Dial Transplant 37:687\u2013696","journal-title":"Nephrol Dial Transplant"},{"key":"6046_CR53","doi-asserted-by":"publisher","first-page":"133","DOI":"10.1038\/nrneph.2015.205","volume":"12","author":"A Vivante","year":"2016","unstructured":"Vivante A, Hildebrandt F (2016) Exploring the genetic basis of early-onset chronic kidney disease. Nat Rev Nephrol 12:133\u2013146","journal-title":"Nat Rev Nephrol"},{"key":"6046_CR54","doi-asserted-by":"publisher","first-page":"197","DOI":"10.1017\/S1120962300021326","volume":"3","author":"H Grebe","year":"1954","unstructured":"Grebe H (1954) Etiological role of the genes and phenocopies in human abnormalities. Acta Genet Med Gemellol (Roma) 3:197\u2013209","journal-title":"Acta Genet Med Gemellol (Roma)"},{"key":"6046_CR55","doi-asserted-by":"publisher","first-page":"77","DOI":"10.1038\/ng0994-77","volume":"8","author":"T Mochizuki","year":"1994","unstructured":"Mochizuki T, Lemmink HH, Mariyama M et al (1994) Identification of mutations in the alpha 3(IV) and alpha 4(IV) collagen genes in autosomal recessive Alport syndrome. Nat Genet 8:77\u201381","journal-title":"Nat Genet"},{"key":"6046_CR56","doi-asserted-by":"publisher","first-page":"2538","DOI":"10.1073\/pnas.0707730105","volume":"105","author":"F Castelletti","year":"2008","unstructured":"Castelletti F, Donadelli R, Banterla F et al (2008) Mutations in FN1 cause glomerulopathy with fibronectin deposits. Proc Natl Acad Sci U S A 105:2538\u20132543","journal-title":"Proc Natl Acad Sci U S A"},{"key":"6046_CR57","doi-asserted-by":"publisher","first-page":"957","DOI":"10.1038\/ng2063","volume":"39","author":"S Kantarci","year":"2007","unstructured":"Kantarci S, Al-Gazali L, Hill RS et al (2007) Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes. Nat Genet 39:957\u2013959","journal-title":"Nat Genet"},{"key":"6046_CR58","doi-asserted-by":"publisher","first-page":"239","DOI":"10.1038\/358239a0","volume":"358","author":"O Attree","year":"1992","unstructured":"Attree O, Olivos IM, Okabe I et al (1992) The Lowe\u2019s oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phosphatase. Nature 358:239\u2013242","journal-title":"Nature"},{"key":"6046_CR59","doi-asserted-by":"publisher","first-page":"368","DOI":"10.1053\/j.ajkd.2003.10.024","volume":"43","author":"VD D'Agati","year":"2004","unstructured":"D\u2019Agati VD, Fogo AB, Bruijn JA et al (2004) Pathologic classification of focal segmental glomerulosclerosis: a working proposal. Am J Kidney Dis 43:368\u2013382","journal-title":"Am J Kidney Dis"},{"key":"6046_CR60","doi-asserted-by":"publisher","first-page":"400","DOI":"10.1053\/j.ackd.2014.02.010","volume":"21","author":"MB Stokes","year":"2014","unstructured":"Stokes MB, D\u2019Agati VD (2014) Morphologic variants of focal segmental glomerulosclerosis and their significance. Adv Chronic Kidney Dis 21:400\u2013407","journal-title":"Adv Chronic Kidney Dis"},{"key":"6046_CR61","doi-asserted-by":"publisher","first-page":"2398","DOI":"10.1056\/NEJMra1106556","volume":"365","author":"VD D'Agati","year":"2011","unstructured":"D\u2019Agati VD, Kaskel FJ, Falk RJ (2011) Focal segmental glomerulosclerosis. N Engl J Med 365:2398\u20132411","journal-title":"N Engl J Med"},{"key":"6046_CR62","doi-asserted-by":"publisher","first-page":"529","DOI":"10.2215\/CJN.04121206","volume":"2","author":"L Barisoni","year":"2007","unstructured":"Barisoni L, Schnaper HW, Kopp JB (2007) A proposed taxonomy for the podocytopathies: a reassessment of the primary nephrotic diseases. Clin J Am Soc Nephrol 2:529\u2013542","journal-title":"Clin J Am Soc Nephrol"},{"key":"6046_CR63","unstructured":"Disease K (2021) Improving global outcomes glomerular diseases work, G., KDIGO 2021 clinical practice guideline for the management of glomerular diseases. Kidney Int 100:S1\u2013S276"},{"key":"6046_CR64","doi-asserted-by":"publisher","first-page":"1279","DOI":"10.1681\/ASN.2014050489","volume":"26","author":"CE Sadowski","year":"2015","unstructured":"Sadowski CE, Lovric S, Ashraf S et al (2015) A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome. J Am Soc Nephrol 26:1279\u20131289","journal-title":"J Am Soc Nephrol"},{"key":"6046_CR65","first-page":"571","volume":"141","author":"S Adler","year":"1992","unstructured":"Adler S (1992) Characterization of glomerular epithelial cell matrix receptors. Am J Pathol 141:571\u2013578","journal-title":"Am J Pathol"},{"key":"6046_CR66","doi-asserted-by":"publisher","first-page":"1069","DOI":"10.1016\/S0002-9440(10)61782-8","volume":"159","author":"M Simons","year":"2001","unstructured":"Simons M, Schwarz K, Kriz W et al (2001) Involvement of lipid rafts in nephrin phosphorylation and organization of the glomerular slit diaphragm. Am J Pathol 159:1069\u20131077","journal-title":"Am J Pathol"},{"key":"6046_CR67","doi-asserted-by":"publisher","first-page":"1621","DOI":"10.1172\/JCI200112849","volume":"108","author":"K Schwarz","year":"2001","unstructured":"Schwarz K, Simons M, Reiser J et al (2001) Podocin, a raft-associated component of the glomerular slit diaphragm, interacts with CD2AP and nephrin. J Clin Invest 108:1621\u20131629","journal-title":"J Clin Invest"},{"key":"6046_CR68","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1681\/ASN.V1111","volume":"11","author":"J Reiser","year":"2000","unstructured":"Reiser J, Kriz W, Kretzler M et al (2000) The glomerular slit diaphragm is a modified adherens junction. J Am Soc Nephrol 11:1\u20138","journal-title":"J Am Soc Nephrol"},{"key":"6046_CR69","doi-asserted-by":"publisher","first-page":"849","DOI":"10.1007\/s00109-009-0505-9","volume":"87","author":"M Zenker","year":"2009","unstructured":"Zenker M, Machuca E, Antignac C (2009) Genetics of nephrotic syndrome: new insights into molecules acting at the glomerular filtration barrier. J Mol Med (Berl) 87:849\u2013857","journal-title":"J Mol Med (Berl)"},{"key":"6046_CR70","doi-asserted-by":"publisher","first-page":"1802","DOI":"10.1093\/ndt\/gfv355","volume":"31","author":"S Lovric","year":"2016","unstructured":"Lovric S, Ashraf S, Tan W et al (2016) Genetic testing in steroid-resistant nephrotic syndrome: when and how? Nephrol Dial Transplant 31:1802\u20131813","journal-title":"Nephrol Dial Transplant"},{"key":"6046_CR71","doi-asserted-by":"publisher","first-page":"724","DOI":"10.1681\/ASN.2005080810","volume":"17","author":"V Eremina","year":"2006","unstructured":"Eremina V, Cui S, Gerber H et al (2006) Vascular endothelial growth factor a signaling in the podocyte-endothelial compartment is required for mesangial cell migration and survival. J Am Soc Nephrol 17:724\u2013735","journal-title":"J Am Soc Nephrol"},{"key":"6046_CR72","doi-asserted-by":"publisher","first-page":"1275","DOI":"10.1681\/ASN.2010090963","volume":"22","author":"T Matsusaka","year":"2011","unstructured":"Matsusaka T, Sandgren E, Shintani A et al (2011) Podocyte injury damages other podocytes. J Am Soc Nephrol 22:1275\u20131285","journal-title":"J Am Soc Nephrol"},{"issue":"Suppl 44","key":"6046_CR73","first-page":"S27","volume":"25","author":"T Faraggiana","year":"2008","unstructured":"Faraggiana T, Giannakakis C (2008) Glomerulosclerosis: pathogenetic mechanisms and possibility of regression. G Ital Nefrol 25(Suppl 44):S27\u2013S32","journal-title":"G Ital Nefrol"},{"key":"6046_CR74","doi-asserted-by":"publisher","first-page":"129","DOI":"10.1007\/s00441-011-1169-7","volume":"347","author":"HS Lee","year":"2012","unstructured":"Lee HS (2012) Mechanisms and consequences of TGF-ss overexpression by podocytes in progressive podocyte disease. Cell Tissue Res 347:129\u2013140","journal-title":"Cell Tissue Res"},{"key":"6046_CR75","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1097\/01.ASN.0000106015.29070.E7","volume":"15","author":"Y Liu","year":"2004","unstructured":"Liu Y (2004) Epithelial to mesenchymal transition in renal fibrogenesis: pathologic significance, molecular mechanism, and therapeutic intervention. J Am Soc Nephrol 15:1\u201312","journal-title":"J Am Soc Nephrol"},{"key":"6046_CR76","doi-asserted-by":"publisher","first-page":"212","DOI":"10.1681\/ASN.2008121226","volume":"21","author":"Y Liu","year":"2010","unstructured":"Liu Y (2010) New insights into epithelial-mesenchymal transition in kidney fibrosis. J Am Soc Nephrol 21:212\u2013222","journal-title":"J Am Soc Nephrol"},{"key":"6046_CR77","doi-asserted-by":"publisher","first-page":"1839","DOI":"10.1681\/ASN.2013121332","volume":"26","author":"TN Wang","year":"2015","unstructured":"Wang TN, Chen X, Li R et al (2015) SREBP-1 mediates angiotensin II-induced TGF-beta1 upregulation and glomerular fibrosis. J Am Soc Nephrol 26:1839\u20131854","journal-title":"J Am Soc Nephrol"},{"key":"6046_CR78","doi-asserted-by":"publisher","first-page":"807","DOI":"10.1172\/JCI200112367","volume":"108","author":"M Schiffer","year":"2001","unstructured":"Schiffer M, Bitzer M, Roberts IS et al (2001) Apoptosis in podocytes induced by TGF-beta and Smad7. J Clin Invest 108:807\u2013816","journal-title":"J Clin Invest"},{"key":"6046_CR79","doi-asserted-by":"publisher","first-page":"1715","DOI":"10.1046\/j.1523-1755.2003.00288.x","volume":"64","author":"JH Kim","year":"2003","unstructured":"Kim JH, Kim BK, Moon KC et al (2003) Activation of the TGF-beta\/Smad signaling pathway in focal segmental glomerulosclerosis. Kidney Int 64:1715\u20131721","journal-title":"Kidney Int"},{"key":"6046_CR80","doi-asserted-by":"publisher","first-page":"334","DOI":"10.1007\/s004670050289","volume":"11","author":"K Murakami","year":"1997","unstructured":"Murakami K, Takemura T, Hino S et al (1997) Urinary transforming growth factor-beta in patients with glomerular diseases. Pediatr Nephrol 11:334\u2013336","journal-title":"Pediatr Nephrol"},{"key":"6046_CR81","doi-asserted-by":"publisher","first-page":"722","DOI":"10.1093\/ckj\/sfac269","volume":"16","author":"A de Haan","year":"2023","unstructured":"de Haan A, Morel CF, Eijgelsheim M et al (2023) Fabry disease with atypical phenotype identified by massively parallel sequencing in early-onset kidney failure. Clin Kidney J 16:722\u2013726","journal-title":"Clin Kidney J"},{"issue":"7","key":"6046_CR82","doi-asserted-by":"publisher","first-page":"1209","DOI":"10.1681\/ASN.2009121309","volume":"21","author":"E Machuca","year":"2010","unstructured":"Machuca E, Benoit G, Nevo F et al (2010) Genotype-phenotype correlations in non-finnish congenital nephrotic syndrome. J Am Soc Nephrol 21(7):1209\u20131217","journal-title":"J Am Soc Nephrol"},{"key":"6046_CR83","doi-asserted-by":"publisher","first-page":"111","DOI":"10.1186\/s12881-019-0845-4","volume":"20","author":"L Zhuo","year":"2019","unstructured":"Zhuo L, Huang L, Yang Z et al (2019) A comprehensive analysis of NPHS1 gene mutations in patients with sporadic focal segmental glomerulosclerosis. BMC Med Genet 20:111","journal-title":"BMC Med Genet"},{"key":"6046_CR84","doi-asserted-by":"publisher","first-page":"750","DOI":"10.1038\/s41581-019-0217-5","volume":"15","author":"MA Saleem","year":"2019","unstructured":"Saleem MA (2019) Molecular stratification of idiopathic nephrotic syndrome. Nat Rev Nephrol 15:750\u2013765","journal-title":"Nat Rev Nephrol"},{"key":"6046_CR85","doi-asserted-by":"publisher","first-page":"782","DOI":"10.5014\/ajot.45.9.782","volume":"45","author":"PA DeMars","year":"1991","unstructured":"DeMars PA, Fleming JD, Benham PA (1991) Ethics across the occupational therapy curriculum. Am J Occup Ther 45:782\u2013787","journal-title":"Am J Occup Ther"},{"key":"6046_CR86","doi-asserted-by":"publisher","first-page":"299","DOI":"10.1038\/ng.2898","volume":"46","author":"K Tory","year":"2014","unstructured":"Tory K, Menyhard DK, Woerner S et al (2014) Mutation-dependent recessive inheritance of NPHS2-associated steroid-resistant nephrotic syndrome. Nat Genet 46:299\u2013304","journal-title":"Nat Genet"},{"key":"6046_CR87","doi-asserted-by":"publisher","first-page":"1291","DOI":"10.1093\/ndt\/gfm759","volume":"23","author":"R Gbadegesin","year":"2008","unstructured":"Gbadegesin R, Hinkes BG, Hoskins BE et al (2008) Mutations in PLCE1 are a major cause of isolated diffuse mesangial sclerosis (IDMS). Nephrol Dial Transplant 23:1291\u20131297","journal-title":"Nephrol Dial Transplant"},{"key":"6046_CR88","doi-asserted-by":"publisher","first-page":"669","DOI":"10.1038\/ki.2008.693","volume":"75","author":"F Hildebrandt","year":"2009","unstructured":"Hildebrandt F, Heeringa SF (2009) Specific podocin mutations determine age of onset of nephrotic syndrome all the way into adult life. Kidney Int 75:669\u2013671","journal-title":"Kidney Int"},{"key":"6046_CR89","doi-asserted-by":"publisher","first-page":"594","DOI":"10.1038\/s12276-020-0410-4","volume":"52","author":"S Yu","year":"2020","unstructured":"Yu S, Choi WI, Choi YJ et al (2020) PLCE1 regulates the migration, proliferation, and differentiation of podocytes. Exp Mol Med 52:594\u2013603","journal-title":"Exp Mol Med"},{"key":"6046_CR90","doi-asserted-by":"publisher","first-page":"992","DOI":"10.1002\/humu.21304","volume":"31","author":"V Matejas","year":"2010","unstructured":"Matejas V, Hinkes B, Alkandari F et al (2010) Mutations in the human laminin beta2 (LAMB2) gene and the associated phenotypic spectrum. Hum Mutat 31:992\u20131002","journal-title":"Hum Mutat"},{"key":"6046_CR91","doi-asserted-by":"publisher","first-page":"480","DOI":"10.1038\/jhg.2013.27","volume":"58","author":"MH Al-Hamed","year":"2013","unstructured":"Al-Hamed MH, Al-Sabban E, Al-Mojalli H et al (2013) A molecular genetic analysis of childhood nephrotic syndrome in a cohort of Saudi Arabian families. J Hum Genet 58:480\u2013489","journal-title":"J Hum Genet"},{"key":"6046_CR92","doi-asserted-by":"publisher","first-page":"1655","DOI":"10.2215\/CJN.09351209","volume":"5","author":"G Chernin","year":"2010","unstructured":"Chernin G, Vega-Warner V, Schoeb DS et al (2010) Genotype\/phenotype correlation in nephrotic syndrome caused by WT1 mutations. Clin J Am Soc Nephrol 5:1655\u20131662","journal-title":"Clin J Am Soc Nephrol"},{"key":"6046_CR93","doi-asserted-by":"publisher","first-page":"2741","DOI":"10.1016\/j.ekir.2022.08.033","volume":"7","author":"MC Morales-Alvarez","year":"2022","unstructured":"Morales-Alvarez MC, Knob A, Rennke HG et al (2022) Clinical and pathological heterogeneity in FSGS due to INF2 mutations. Kidney Int Rep 7:2741\u20132745","journal-title":"Kidney Int Rep"},{"key":"6046_CR94","doi-asserted-by":"publisher","first-page":"316","DOI":"10.1038\/ki.2012.349","volume":"83","author":"M Barua","year":"2013","unstructured":"Barua M, Brown EJ, Charoonratana VT et al (2013) Mutations in the INF2 gene account for a significant proportion of familial but not sporadic focal and segmental glomerulosclerosis. Kidney Int 83:316\u2013322","journal-title":"Kidney Int"},{"key":"6046_CR95","doi-asserted-by":"publisher","first-page":"239","DOI":"10.1681\/ASN.2010050518","volume":"22","author":"O Boyer","year":"2011","unstructured":"Boyer O, Benoit G, Gribouval O et al (2011) Mutations in INF2 are a major cause of autosomal dominant focal segmental glomerulosclerosis. J Am Soc Nephrol 22:239\u2013245","journal-title":"J Am Soc Nephrol"},{"key":"6046_CR96","doi-asserted-by":"publisher","first-page":"3694","DOI":"10.1681\/ASN.2005070706","volume":"16","author":"A Weins","year":"2005","unstructured":"Weins A, Kenlan P, Herbert S et al (2005) Mutational and biological analysis of alpha-actinin-4 in focal segmental glomerulosclerosis. J Am Soc Nephrol 16:3694\u20133701","journal-title":"J Am Soc Nephrol"},{"issue":"Suppl 4","key":"6046_CR97","doi-asserted-by":"publisher","first-page":"iv80-6","DOI":"10.1093\/ndt\/gfu071","volume":"29","author":"G Caridi","year":"2014","unstructured":"Caridi G, Lugani F, Dagnino M et al (2014) Novel INF2 mutations in an Italian cohort of patients with focal segmental glomerulosclerosis, renal failure and Charcot-Marie-Tooth neuropathy. Nephrol Dial Transplant 29(Suppl 4):iv80-6","journal-title":"Nephrol Dial Transplant"},{"key":"6046_CR98","doi-asserted-by":"publisher","first-page":"1152","DOI":"10.1093\/hmg\/ddv638","volume":"25","author":"MP Bartram","year":"2016","unstructured":"Bartram MP, Habbig S, Pahmeyer C et al (2016) Three-layered proteomic characterization of a novel ACTN4 mutation unravels its pathogenic potential in FSGS. Hum Mol Genet 25:1152\u20131164","journal-title":"Hum Mol Genet"},{"key":"6046_CR99","doi-asserted-by":"publisher","first-page":"2377","DOI":"10.1056\/NEJMoa1109122","volume":"365","author":"O Boyer","year":"2011","unstructured":"Boyer O, Nevo F, Plaisier E et al (2011) INF2 mutations in charcot-marie-tooth disease with glomerulopathy. N Engl J Med 365:2377\u20132388","journal-title":"N Engl J Med"},{"key":"6046_CR100","doi-asserted-by":"publisher","first-page":"739","DOI":"10.1038\/ng1592","volume":"37","author":"J Reiser","year":"2005","unstructured":"Reiser J, Polu KR, Moller CC et al (2005) TRPC6 is a glomerular slit diaphragm-associated channel required for normal renal function. Nat Genet 37:739\u2013744","journal-title":"Nat Genet"},{"key":"6046_CR101","doi-asserted-by":"publisher","first-page":"1910","DOI":"10.1681\/ASN.2018070729","volume":"30","author":"LK Farmer","year":"2019","unstructured":"Farmer LK, Rollason R, Whitcomb DJ et al (2019) TRPC6 binds to and activates calpain, independent of its channel activity, and regulates podocyte cytoskeleton, cell adhesion, and motility. J Am Soc Nephrol 30:1910\u20131924","journal-title":"J Am Soc Nephrol"},{"issue":"1 Pt 2","key":"6046_CR102","first-page":"F150","volume":"273","author":"WE Smoyer","year":"1997","unstructured":"Smoyer WE, Mundel P, Gupta A et al (1997) Podocyte alpha-actinin induction precedes foot process effacement in experimental nephrotic syndrome. Am J Physiol 273(1 Pt 2):F150\u2013F157","journal-title":"Am J Physiol"},{"key":"6046_CR103","doi-asserted-by":"publisher","first-page":"961","DOI":"10.1681\/ASN.2008060613","volume":"20","author":"JM Henderson","year":"2009","unstructured":"Henderson JM, Alexander MP, Pollak MR (2009) Patients with ACTN4 mutations demonstrate distinctive features of glomerular injury. J Am Soc Nephrol 20:961\u2013968","journal-title":"J Am Soc Nephrol"},{"key":"6046_CR104","doi-asserted-by":"publisher","first-page":"357","DOI":"10.1016\/j.ajhg.2021.01.008","volume":"108","author":"PL Weng","year":"2021","unstructured":"Weng PL, Majmundar AJ, Khan K et al (2021) De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis. Am J Hum Genet 108:357\u2013367","journal-title":"Am J Hum Genet"},{"key":"6046_CR105","doi-asserted-by":"publisher","first-page":"457","DOI":"10.1002\/humu.22020","volume":"33","author":"M Bower","year":"2012","unstructured":"Bower M, Salomon R, Allanson J et al (2012) Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database. Hum Mutat 33:457\u2013466","journal-title":"Hum Mutat"},{"key":"6046_CR106","doi-asserted-by":"publisher","first-page":"181","DOI":"10.1016\/S0002-9440(10)65264-9","volume":"154","author":"Y Yang","year":"1999","unstructured":"Yang Y, Jeanpierre C, Dressler GR et al (1999) WT1 and PAX-2 podocyte expression in Denys-Drash syndrome and isolated diffuse mesangial sclerosis. Am J Pathol 154:181\u2013192","journal-title":"Am J Pathol"},{"key":"6046_CR107","unstructured":"Lipska-Zietkiewicz BS (1993) In: Adam MP et al (eds) WT1 Disorder, in GeneReviews((R)), Seattle (WA)"},{"key":"6046_CR108","doi-asserted-by":"publisher","first-page":"841","DOI":"10.1126\/science.1193032","volume":"329","author":"G Genovese","year":"2010","unstructured":"Genovese G, Friedman DJ, Ross MD et al (2010) Association of trypanolytic ApoL1 variants with kidney disease in African Americans. Science 329:841\u2013845","journal-title":"Science"},{"key":"6046_CR109","doi-asserted-by":"publisher","first-page":"3367","DOI":"10.1172\/JCI46263","volume":"121","author":"DJ Friedman","year":"2011","unstructured":"Friedman DJ, Pollak MR (2011) Genetics of kidney failure and the evolving story of APOL1. J Clin Invest 121:3367\u20133374","journal-title":"J Clin Invest"},{"key":"6046_CR110","doi-asserted-by":"publisher","first-page":"33","DOI":"10.1681\/ASN.2020060804","volume":"32","author":"AA Shetty","year":"2021","unstructured":"Shetty AA, Tawhari I, Safar-Boueri L et al (2021) COVID-19-associated glomerular disease. J Am Soc Nephrol 32:33\u201340","journal-title":"J Am Soc Nephrol"},{"key":"6046_CR111","doi-asserted-by":"publisher","first-page":"429","DOI":"10.1038\/nm.4287","volume":"23","author":"P Beckerman","year":"2017","unstructured":"Beckerman P, Bi-Karchin J, Park AS et al (2017) Transgenic expression of human APOL1 risk variants in podocytes induces kidney disease in mice. Nat Med 23:429\u2013438","journal-title":"Nat Med"},{"key":"6046_CR112","doi-asserted-by":"publisher","first-page":"995","DOI":"10.1111\/ctr.12408","volume":"28","author":"M Quaglia","year":"2014","unstructured":"Quaglia M, Musetti C, Ghiggeri GM et al (2014) Unexpectedly high prevalence of rare genetic disorders in kidney transplant recipients with an unknown causal nephropathy. Clin Transplant 28:995\u20131003","journal-title":"Clin Transplant"},{"key":"6046_CR113","doi-asserted-by":"publisher","DOI":"10.3389\/fmed.2022.957733","volume":"9","author":"J Comic","year":"2022","unstructured":"Comic J, Riedhammer KM, Gunthner R et al (2022) The multifaceted phenotypic and genotypic spectrum of type-IV-collagen-related nephropathy-A human genetics department experience. Front Med (Lausanne) 9:957733","journal-title":"Front Med (Lausanne)"},{"key":"6046_CR114","doi-asserted-by":"publisher","first-page":"900","DOI":"10.34067\/KID.0004162021","volume":"3","author":"KV Lieberman","year":"2022","unstructured":"Lieberman KV, Chang AR, Block GA et al (2022) The KIDNEYCODE Program: diagnostic yield and clinical features of individuals with CKD. Kidney360 3:900\u2013909","journal-title":"Kidney360"},{"key":"6046_CR115","doi-asserted-by":"publisher","first-page":"1969","DOI":"10.2215\/CJN.02190312","volume":"7","author":"J Temme","year":"2012","unstructured":"Temme J, Kramer A, Jager KJ et al (2012) Outcomes of male patients with Alport syndrome undergoing renal replacement therapy. Clin J Am Soc Nephrol 7:1969\u20131976","journal-title":"Clin J Am Soc Nephrol"},{"key":"6046_CR116","doi-asserted-by":"publisher","first-page":"649","DOI":"10.1681\/ASN.V114649","volume":"11","author":"JP Jais","year":"2000","unstructured":"Jais JP, Knebelmann B, Giatras I et al (2000) X-linked Alport syndrome: natural history in 195 families and genotype- phenotype correlations in males. J Am Soc Nephrol 11:649\u2013657","journal-title":"J Am Soc Nephrol"},{"key":"6046_CR117","doi-asserted-by":"publisher","first-page":"876","DOI":"10.1681\/ASN.2009070784","volume":"21","author":"MR Bekheirnia","year":"2010","unstructured":"Bekheirnia MR, Reed B, Gregory MC et al (2010) Genotype-phenotype correlation in X-linked Alport syndrome. J Am Soc Nephrol 21:876\u2013883","journal-title":"J Am Soc Nephrol"},{"key":"6046_CR118","doi-asserted-by":"publisher","first-page":"1947","DOI":"10.1046\/j.1523-1755.2002.00379.x","volume":"61","author":"I Longo","year":"2002","unstructured":"Longo I, Porcedda P, Mari F et al (2002) COL4A3\/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndrome. Kidney Int 61:1947\u20131956","journal-title":"Kidney Int"},{"key":"6046_CR119","doi-asserted-by":"publisher","first-page":"1027","DOI":"10.1007\/s00467-005-1859-z","volume":"20","author":"CE Kashtan","year":"2005","unstructured":"Kashtan CE (2005) Familial hematurias: what we know and what we don\u2019t. Pediatr Nephrol 20:1027\u20131035","journal-title":"Pediatr Nephrol"},{"key":"6046_CR120","first-page":"S29","volume":"49","author":"C Antignac","year":"1995","unstructured":"Antignac C (1995) Molecular genetics of basement membranes: the paradigm of Alport syndrome. Kidney Int Suppl 49:S29\u2013S33","journal-title":"Kidney Int Suppl"},{"key":"6046_CR121","doi-asserted-by":"publisher","first-page":"1697","DOI":"10.2215\/CJN.03120322","volume":"17","author":"J Savige","year":"2022","unstructured":"Savige J, Renieri A, Ars E et al (2022) Digenic alport syndrome. Clin J Am Soc Nephrol 17:1697\u20131706","journal-title":"Clin J Am Soc Nephrol"},{"key":"6046_CR122","doi-asserted-by":"publisher","DOI":"10.3389\/fmed.2022.865034","volume":"9","author":"J Savige","year":"2022","unstructured":"Savige J, Huang M, Croos Dabrera MS et al (2022) Genotype-phenotype correlations for pathogenic COL4A3-COL4A5 variants in X-linked, autosomal recessive, and autosomal dominant alport syndrome. Front Med (Lausanne) 9:865034","journal-title":"Front Med (Lausanne)"},{"key":"6046_CR123","doi-asserted-by":"publisher","first-page":"3004","DOI":"10.1681\/ASN.2007040444","volume":"18","author":"K Voskarides","year":"2007","unstructured":"Voskarides K, Damianou L, Neocleous V et al (2007) COL4A3\/COL4A4 mutations producing focal segmental glomerulosclerosis and renal failure in thin basement membrane nephropathy. J Am Soc Nephrol 18:3004\u20133016","journal-title":"J Am Soc Nephrol"},{"key":"6046_CR124","doi-asserted-by":"publisher","first-page":"961","DOI":"10.1093\/ndt\/gfv325","volume":"31","author":"C Gast","year":"2016","unstructured":"Gast C, Pengelly RJ, Lyon M et al (2016) Collagen (COL4A) mutations are the most frequent mutations underlying adult focal segmental glomerulosclerosis. Nephrol Dial Transplant 31:961\u2013970","journal-title":"Nephrol Dial Transplant"},{"key":"6046_CR125","doi-asserted-by":"publisher","first-page":"100","DOI":"10.7326\/M17-1319","volume":"168","author":"S Lata","year":"2018","unstructured":"Lata S, Marasa M, Li Y et al (2018) Whole-exome sequencing in adults with chronic kidney disease: a pilot study. Ann Intern Med 168:100\u2013109","journal-title":"Ann Intern Med"},{"key":"6046_CR126","doi-asserted-by":"publisher","first-page":"1253","DOI":"10.1038\/ki.2014.305","volume":"86","author":"AF Malone","year":"2014","unstructured":"Malone AF, Phelan PJ, Hall G et al (2014) Rare hereditary COL4A3\/COL4A4 variants may be mistaken for familial focal segmental glomerulosclerosis. Kidney Int 86:1253\u20131259","journal-title":"Kidney Int"},{"key":"6046_CR127","doi-asserted-by":"publisher","first-page":"171","DOI":"10.3389\/fped.2018.00171","volume":"6","author":"MC Braunisch","year":"2018","unstructured":"Braunisch MC, Buttner-Herold M, Gunthner R et al (2018) Heterozygous COL4A3 variants in histologically diagnosed focal segmental glomerulosclerosis. Front Pediatr 6:171","journal-title":"Front Pediatr"},{"key":"6046_CR128","doi-asserted-by":"publisher","first-page":"213","DOI":"10.2215\/CJN.08750718","volume":"14","author":"T Yao","year":"2019","unstructured":"Yao T, Udwan K, John R et al (2019) Integration of genetic testing and pathology for the diagnosis of adults with FSGS. Clin J Am Soc Nephrol 14:213\u2013223","journal-title":"Clin J Am Soc Nephrol"},{"key":"6046_CR129","doi-asserted-by":"publisher","first-page":"142","DOI":"10.1056\/NEJMoa1806891","volume":"380","author":"EE Groopman","year":"2019","unstructured":"Groopman EE, Marasa M, Cameron-Christie S et al (2019) Diagnostic utility of exome sequencing for kidney disease. N Engl J Med 380:142\u2013151","journal-title":"N Engl J Med"},{"key":"6046_CR130","doi-asserted-by":"publisher","first-page":"27","DOI":"10.1038\/s41572-018-0025-4","volume":"4","author":"FM Platt","year":"2018","unstructured":"Platt FM, d\u2019Azzo A, Davidson BL et al (2018) Lysosomal storage diseases. Nat Rev Dis Primers 4:27","journal-title":"Nat Rev Dis Primers"},{"key":"6046_CR131","doi-asserted-by":"publisher","first-page":"122","DOI":"10.1097\/00005792-200203000-00003","volume":"81","author":"MH Branton","year":"2002","unstructured":"Branton MH, Schiffmann R, Sabnis SG et al (2002) Natural history of Fabry renal disease: influence of alpha-galactosidase A activity and genetic mutations on clinical course. Medicine (Baltimore) 81:122\u2013138","journal-title":"Medicine (Baltimore)"},{"key":"6046_CR132","doi-asserted-by":"publisher","first-page":"284","DOI":"10.1016\/j.kint.2016.10.004","volume":"91","author":"R Schiffmann","year":"2017","unstructured":"Schiffmann R, Hughes DA, Linthorst GE et al (2017) Screening, diagnosis, and management of patients with Fabry disease: conclusions from a \u201cKidney Disease: Improving Global Outcomes\u201d (KDIGO) Controversies Conference. Kidney Int 91:284\u2013293","journal-title":"Kidney Int"},{"key":"6046_CR133","doi-asserted-by":"publisher","first-page":"245","DOI":"10.5935\/0101-2800.20160034","volume":"38","author":"H Abensur","year":"2016","unstructured":"Abensur H, Reis MA (2016) Renal involvement in Fabry disease. J Bras Nefrol 38:245\u2013254","journal-title":"J Bras Nefrol"},{"key":"6046_CR134","doi-asserted-by":"publisher","first-page":"51","DOI":"10.1159\/000351516","volume":"3","author":"H Trimarchi","year":"2013","unstructured":"Trimarchi H, Karl A, Rana MS et al (2013) Initially nondiagnosed fabry\u2019s disease when electron microscopy is lacking: the continuing story of focal and segmental glomerulosclerosis. Case Rep Nephrol Urol 3:51\u201357","journal-title":"Case Rep Nephrol Urol"},{"key":"6046_CR135","doi-asserted-by":"publisher","first-page":"1275","DOI":"10.3892\/ijmm.2012.1139","volume":"30","author":"MH Lee","year":"2012","unstructured":"Lee MH, Choi EN, Jeon YJ et al (2012) Possible role of transforming growth factor-beta1 and vascular endothelial growth factor in Fabry disease nephropathy. Int J Mol Med 30:1275\u20131280","journal-title":"Int J Mol Med"},{"issue":"Suppl 1","key":"6046_CR136","doi-asserted-by":"publisher","first-page":"S67","DOI":"10.1007\/s10545-009-1060-9","volume":"32","author":"P Rozenfeld","year":"2009","unstructured":"Rozenfeld P, Agriello E, De Francesco N et al (2009) Leukocyte perturbation associated with Fabry disease. J Inherit Metab Dis 32(Suppl 1):S67\u2013S77","journal-title":"J Inherit Metab Dis"},{"key":"6046_CR137","doi-asserted-by":"publisher","first-page":"925","DOI":"10.1007\/s10157-021-02058-z","volume":"25","author":"S Feriozzi","year":"2021","unstructured":"Feriozzi S, Rozenfeld P (2021) Pathology and pathogenic pathways in fabry nephropathy. Clin Exp Nephrol 25:925\u2013934","journal-title":"Clin Exp Nephrol"},{"key":"6046_CR138","doi-asserted-by":"publisher","first-page":"19","DOI":"10.1016\/j.ymgme.2017.09.004","volume":"122","author":"P Rozenfeld","year":"2017","unstructured":"Rozenfeld P, Feriozzi S (2017) Contribution of inflammatory pathways to fabry disease pathogenesis. Mol Genet Metab 122:19\u201327","journal-title":"Mol Genet Metab"},{"key":"6046_CR139","doi-asserted-by":"publisher","first-page":"63","DOI":"10.1684\/epd.2016.0843","volume":"18","author":"L Dibbens","year":"2016","unstructured":"Dibbens L, Schwake M, Saftig P et al (2016) SCARB2\/LIMP2 deficiency in action myoclonus-renal failure syndrome. Epileptic Disord 18:63\u201372","journal-title":"Epileptic Disord"},{"key":"6046_CR140","doi-asserted-by":"publisher","first-page":"241","DOI":"10.1007\/s00467-008-1051-3","volume":"25","author":"G Caridi","year":"2010","unstructured":"Caridi G, Trivelli A, Sanna-Cherchi S et al (2010) Familial forms of nephrotic syndrome. Pediatr Nephrol 25:241\u2013252","journal-title":"Pediatr Nephrol"},{"key":"6046_CR141","doi-asserted-by":"publisher","first-page":"F1437","DOI":"10.1152\/ajprenal.00015.2011","volume":"300","author":"MJ Desmond","year":"2011","unstructured":"Desmond MJ, Lee D, Fraser SA et al (2011) Tubular proteinuria in mice and humans lacking the intrinsic lysosomal protein SCARB2\/Limp-2. Am J Physiol Renal Physiol 300:F1437\u2013F1447","journal-title":"Am J Physiol Renal Physiol"},{"key":"6046_CR142","doi-asserted-by":"publisher","first-page":"2253","DOI":"10.1007\/s00467-013-2652-z","volume":"29","author":"K Surendran","year":"2014","unstructured":"Surendran K, Vitiello SP, Pearce DA (2014) Lysosome dysfunction in the pathogenesis of kidney diseases. Pediatr Nephrol 29:2253\u20132261","journal-title":"Pediatr Nephrol"},{"key":"6046_CR143","doi-asserted-by":"publisher","first-page":"2332","DOI":"10.1016\/j.ekir.2022.08.012","volume":"7","author":"CS Laura Econimo","year":"2022","unstructured":"Laura Econimo CS, Zeni L, Cortinovis R, Alberici F, Rampoldi L, Scolari F, Izzi C (2022) Autosomal dominant tubulointerstitial kidney disease: an emerging cause of genetic CKD. Kidney Int Rep 7:2332\u20132344","journal-title":"Kidney Int Rep"},{"key":"6046_CR144","doi-asserted-by":"publisher","first-page":"525","DOI":"10.1038\/nrneph.2017.101","volume":"13","author":"O Devuyst","year":"2017","unstructured":"Devuyst O, Olinger E, Rampoldi L (2017) Uromodulin: from physiology to rare and complex kidney disorders. Nat Rev Nephrol 13:525\u2013544","journal-title":"Nat Rev Nephrol"},{"key":"6046_CR145","doi-asserted-by":"crossref","unstructured":"LaFavers KA, Macedo E, Garimella PS et al (2019) Circulating uromodulin inhibits systemic oxidative stress by inactivating the TRPM2 channel. Sci Transl Med 11:eaaw3639","DOI":"10.1126\/scitranslmed.aaw3639"},{"key":"6046_CR146","doi-asserted-by":"publisher","first-page":"2429","DOI":"10.2215\/CJN.01220211","volume":"6","author":"G Bollee","year":"2011","unstructured":"Bollee G, Dahan K, Flamant M et al (2011) Phenotype and outcome in hereditary tubulointerstitial nephritis secondary to UMOD mutations. Clin J Am Soc Nephrol 6:2429\u20132438","journal-title":"Clin J Am Soc Nephrol"},{"key":"6046_CR147","doi-asserted-by":"publisher","first-page":"301","DOI":"10.1186\/s12882-018-1107-y","volume":"19","author":"C Gast","year":"2018","unstructured":"Gast C, Marinaki A, Arenas-Hernandez M et al (2018) Autosomal dominant tubulointerstitial kidney disease-UMOD is the most frequent non polycystic genetic kidney disease. BMC Nephrol 19:301","journal-title":"BMC Nephrol"},{"key":"6046_CR148","doi-asserted-by":"publisher","first-page":"987","DOI":"10.1053\/j.ajkd.2004.08.021","volume":"44","author":"F Scolari","year":"2004","unstructured":"Scolari F, Caridi G, Rampoldi L et al (2004) Uromodulin storage diseases: clinical aspects and mechanisms. Am J Kidney Dis 44:987\u2013999","journal-title":"Am J Kidney Dis"},{"key":"6046_CR149","doi-asserted-by":"publisher","first-page":"633","DOI":"10.1007\/s00467-019-04210-0","volume":"35","author":"L Beara-Lasic","year":"2020","unstructured":"Beara-Lasic L, Cogal A, Mara K et al (2020) Prevalence of low molecular weight proteinuria and Dent disease 1 CLCN5 mutations in proteinuric cohorts. Pediatr Nephrol 35:633\u2013640","journal-title":"Pediatr Nephrol"},{"key":"6046_CR150","doi-asserted-by":"publisher","first-page":"2168","DOI":"10.2215\/CJN.03710416","volume":"11","author":"X Wang","year":"2016","unstructured":"Wang X, Anglani F, Beara-Lasic L et al (2016) Glomerular pathology in dent disease and its association with kidney function. Clin J Am Soc Nephrol 11:2168\u20132176","journal-title":"Clin J Am Soc Nephrol"},{"key":"6046_CR151","doi-asserted-by":"publisher","first-page":"1443","DOI":"10.1016\/j.ekir.2018.06.003","volume":"3","author":"AK Solanki","year":"2018","unstructured":"Solanki AK, Arif E, Morinelli T et al (2018) A novel CLCN5 mutation associated with focal segmental glomerulosclerosis and podocyte injury. Kidney Int Rep 3:1443\u20131453","journal-title":"Kidney Int Rep"},{"key":"6046_CR152","doi-asserted-by":"publisher","first-page":"781","DOI":"10.1007\/s00467-009-1362-z","volume":"25","author":"K Kaneko","year":"2010","unstructured":"Kaneko K, Hasui M, Hata A et al (2010) Focal segmental glomerulosclerosis in a boy with Dent-2 disease. Pediatr Nephrol 25:781\u2013782","journal-title":"Pediatr Nephrol"},{"key":"6046_CR153","doi-asserted-by":"publisher","first-page":"1533","DOI":"10.1056\/NEJMra1010172","volume":"364","author":"F Hildebrandt","year":"2011","unstructured":"Hildebrandt F, Benzing T, Katsanis N (2011) Ciliopathies. N Engl J Med 364:1533\u20131543","journal-title":"N Engl J Med"},{"key":"6046_CR154","first-page":"151","volume":"32","author":"G Bullich","year":"2017","unstructured":"Bullich G, Vargas I, Trujillano D et al (2017) Contribution of the TTC21B gene to glomerular and cystic kidney diseases. Nephrol Dial Transplant 32:151\u2013156","journal-title":"Nephrol Dial Transplant"},{"key":"6046_CR155","doi-asserted-by":"publisher","first-page":"109","DOI":"10.1002\/ajmg.c.31964","volume":"190","author":"E Olinger","year":"2022","unstructured":"Olinger E, Phakdeekitcharoen P, Caliskan Y et al (2022) Biallelic variants in TTC21B as a rare cause of early-onset arterial hypertension and tubuloglomerular kidney disease. Am J Med Genet C Semin Med Genet 190:109\u2013120","journal-title":"Am J Med Genet C Semin Med Genet"},{"key":"6046_CR156","doi-asserted-by":"publisher","first-page":"2435","DOI":"10.1681\/ASN.2013101126","volume":"25","author":"E Huynh Cong","year":"2014","unstructured":"Huynh Cong E, Bizet AA, Boyer O et al (2014) A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS. J Am Soc Nephrol 25:2435\u20132443","journal-title":"J Am Soc Nephrol"},{"key":"6046_CR157","doi-asserted-by":"publisher","first-page":"116","DOI":"10.1007\/s13730-021-00640-8","volume":"11","author":"M Awazu","year":"2022","unstructured":"Awazu M, Yamada M, Asada N et al (2022) A girl with a mutation of the ciliary gene CC2D2A presenting with FSGS and nephronophthisis. CEN Case Rep 11:116\u2013119","journal-title":"CEN Case Rep"},{"key":"6046_CR158","doi-asserted-by":"publisher","first-page":"1161","DOI":"10.1086\/344395","volume":"71","author":"E Otto","year":"2002","unstructured":"Otto E, Hoefele J, Ruf R et al (2002) A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution. Am J Hum Genet 71:1161\u20131167","journal-title":"Am J Hum Genet"},{"key":"6046_CR159","doi-asserted-by":"publisher","first-page":"855","DOI":"10.1053\/j.ajkd.2007.08.009","volume":"50","author":"K Mistry","year":"2007","unstructured":"Mistry K, Ireland JH, Ng RC et al (2007) Novel mutations in NPHP4 in a consanguineous family with histological findings of focal segmental glomerulosclerosis. Am J Kidney Dis 50:855\u2013864","journal-title":"Am J Kidney Dis"},{"key":"6046_CR160","doi-asserted-by":"publisher","first-page":"1844","DOI":"10.1016\/S0140-6736(14)60659-0","volume":"383","author":"O Devuyst","year":"2014","unstructured":"Devuyst O, Knoers NV, Remuzzi G et al (2014) Rare inherited kidney diseases: challenges, opportunities, and perspectives. Lancet 383:1844\u20131859","journal-title":"Lancet"},{"key":"6046_CR161","doi-asserted-by":"publisher","first-page":"98","DOI":"10.1186\/1750-1172-9-98","volume":"9","author":"A Mallett","year":"2014","unstructured":"Mallett A, Patel C, Salisbury A et al (2014) The prevalence and epidemiology of genetic renal disease amongst adults with chronic kidney disease in Australia. Orphanet J Rare Dis 9:98","journal-title":"Orphanet J Rare Dis"}],"container-title":["Pediatric Nephrology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00467-023-06046-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00467-023-06046-1\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00467-023-06046-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,4,18]],"date-time":"2024-04-18T13:06:31Z","timestamp":1713445591000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00467-023-06046-1"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,9,20]]},"references-count":161,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2024,6]]}},"alternative-id":["6046"],"URL":"https:\/\/doi.org\/10.1007\/s00467-023-06046-1","relation":{},"ISSN":["0931-041X","1432-198X"],"issn-type":[{"value":"0931-041X","type":"print"},{"value":"1432-198X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,9,20]]},"assertion":[{"value":"3 January 2023","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"2 May 2023","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"30 May 2023","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"20 September 2023","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}}]}}