{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,22]],"date-time":"2026-01-22T23:34:05Z","timestamp":1769124845537,"version":"3.49.0"},"reference-count":71,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[2021,2,24]],"date-time":"2021-02-24T00:00:00Z","timestamp":1614124800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2021,2,24]],"date-time":"2021-02-24T00:00:00Z","timestamp":1614124800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["World J Pediatr"],"published-print":{"date-parts":[[2021,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p>Hereditary renal tubular disease can cause hypercalciuria, acid-base imbalance, hypokalemia, hypomagnesemia, rickets, kidney stones, etc. If these diseases are not diagnosed or treated in time, they can cause kidney damage and electrolyte disturbances, which can be detrimental to the maturation and development of the child. Glomerular involvement in renal tubular disease patients has only been considered recently.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Methods<\/jats:title>\n                <jats:p>We screened 71 papers (including experimental research, clinical research, etc.) about Dent\u2019s disease, Gitelman syndrome, and cystinosis from PubMed, and made reference.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Results<\/jats:title>\n                <jats:p>Glomerular disease was initially underestimated among the clinical signs of renal tubular disease or was treated merely as a consequence of the tubular damage. Renal tubular diseases affect glomerular podocytes through certain mechanisms resulting in functional damage, morphological changes, and glomerular lesions.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusions<\/jats:title>\n                <jats:p>This article focuses on the progress of changes in glomerular podocyte function in Dent disease, Gitelman syndrome, and cystinosis for the purposes of facilitating clinically accurate diagnosis and scientific treatment and improving prognosis.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1007\/s12519-021-00417-0","type":"journal-article","created":{"date-parts":[[2021,2,24]],"date-time":"2021-02-24T15:04:24Z","timestamp":1614179064000},"page":"227-233","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Glomerular podocyte dysfunction in inherited renal tubular disease"],"prefix":"10.1007","volume":"17","author":[{"given":"Li-Min","family":"Huang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6076-3806","authenticated-orcid":false,"given":"Jian-Hua","family":"Mao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2021,2,24]]},"reference":[{"key":"417_CR1","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1146\/annurev-physiol-020911-153238","volume":"74","author":"A Greka","year":"2012","unstructured":"Greka A, Mundel P. Cell biology and pathology of podocytes. Annu Rev Physiol. 2012;74:299\u2013323.","journal-title":"Annu Rev Physiol"},{"key":"417_CR2","doi-asserted-by":"crossref","first-page":"385","DOI":"10.1007\/BF00240371","volume":"192","author":"P Mundel","year":"1995","unstructured":"Mundel P, Kriz W. Structure and function of podocytes: an update. Anat Embryol (Berl). 1995;192:385\u201397.","journal-title":"Anat Embryol (Berl)"},{"key":"417_CR3","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1038\/74139","volume":"24","author":"S Somlo","year":"2000","unstructured":"Somlo S, Mundel P. Getting a foothold in nephrotic syndrome. Nat Genet. 2000;24:333\u20135.","journal-title":"Nat Genet"},{"key":"417_CR4","doi-asserted-by":"crossref","first-page":"1583","DOI":"10.1172\/JCI200114629","volume":"108","author":"D Kerjaschki","year":"2001","unstructured":"Kerjaschki D. Caught flat-footed: podocyte damage and the molecular bases of focal glomerulosclerosis. J Clin Invest. 2001;108:1583\u20137.","journal-title":"J Clin Invest"},{"key":"417_CR5","first-page":"473","volume":"87","author":"OM Wrong","year":"1994","unstructured":"Wrong OM, Norden AG, Feest TG. Dent\u2019s disease; a familial proximal renal tubular syndrome with low-molecular-weight proteinuria, hypercalciuria, nephrocalcinosis, metabolic bone disease, progressive renal failure and a marked male predominance. QJM. 1994;87:473\u201393.","journal-title":"QJM"},{"key":"417_CR6","doi-asserted-by":"crossref","first-page":"1139","DOI":"10.1002\/humu.23556","volume":"39","author":"Y Bignon","year":"2018","unstructured":"Bignon Y, Alekov A, Frachon N, Lahuna O, Doh-Egueli CJB, Desch\u00eanes G, et al. A novel CLCN5 pathogenic mutation supports Dent disease with normal endosomal acidification. Hum Mutat. 2018;39:1139\u201349.","journal-title":"Hum Mutat"},{"key":"417_CR7","doi-asserted-by":"crossref","first-page":"787","DOI":"10.1046\/j.1523-1755.2000.00916.x","volume":"57","author":"RV Thakker","year":"2000","unstructured":"Thakker RV. Pathogenesis of Dent\u2019s disease and related syndromes of X-linked nephrolithiasis. Kidney Int. 2000;57:787\u201393.","journal-title":"Kidney Int"},{"key":"417_CR8","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1186\/1750-1172-5-28","volume":"5","author":"O Devuyst","year":"2010","unstructured":"Devuyst O, Thakker RV. Dent\u2019s disease. Orphanet J Rare Dis. 2010;5:28.","journal-title":"Orphanet J Rare Dis"},{"key":"417_CR9","doi-asserted-by":"crossref","first-page":"430","DOI":"10.1016\/j.kint.2016.04.022","volume":"90","author":"A Blanchard","year":"2016","unstructured":"Blanchard A, Curis E, Guyon-Roger T, Kahila D, Treard C, Baudouin V, et al. Observations of a large Dent disease cohort. Kidney Int. 2016;90:430\u20139.","journal-title":"Kidney Int"},{"key":"417_CR10","doi-asserted-by":"crossref","first-page":"693","DOI":"10.1007\/s00467-010-1657-0","volume":"26","author":"F Claverie-Martin","year":"2011","unstructured":"Claverie-Martin F, Ramos-Trujillo E, Garcia-Nieto V. Dent\u2019s disease: clinical features and molecular basis. Pediatr Nephrol. 2011;26:693\u20134.","journal-title":"Pediatr Nephrol"},{"key":"417_CR11","doi-asserted-by":"crossref","first-page":"376","DOI":"10.1093\/ndt\/gft394","volume":"29","author":"T Sekine","year":"2014","unstructured":"Sekine T, Komoda F, Miura K, Takita J, Shimadzu M, Matsuyama T, et al. Japanese Dent disease has a wider clinical spectrum than Dent disease in Europe\/USA: genetic and clinical studies of 86 unrelated patients with low-molecular-weight proteinuria. Nephrol Dial Transplant. 2014;29:376\u201384.","journal-title":"Nephrol Dial Transplant"},{"key":"417_CR12","first-page":"85","volume":"33","author":"M Zaniew","year":"2018","unstructured":"Zaniew M, Bokenkamp A, Kolbuc M, La Scola C, Baronio F, Niemirska A, et al. Long-term renal outcome in children with OCRL mutations: retrospective analysis of a large international cohort. Nephrol Dial Transplant. 2018;33:85\u201394.","journal-title":"Nephrol Dial Transplant"},{"key":"417_CR13","doi-asserted-by":"crossref","first-page":"1331","DOI":"10.1681\/ASN.V1171331","volume":"11","author":"S Waldegger","year":"2000","unstructured":"Waldegger S, Jentsch TJ. From tonus to tonicity: physiology of CLC chloride channels. J Am Soc Nephrol. 2000;11:1331\u20139.","journal-title":"J Am Soc Nephrol"},{"key":"417_CR14","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1038\/ng1097-125","volume":"17","author":"RV Thakker","year":"1997","unstructured":"Thakker RV. Chloride channels cough up. Nat Genet. 1997;17:125\u20137.","journal-title":"Nat Genet"},{"key":"417_CR15","doi-asserted-by":"crossref","first-page":"260","DOI":"10.1086\/427887","volume":"76","author":"RR Hoopes Jr","year":"2005","unstructured":"Hoopes RR Jr, Shrimpton AE, Knohl SJ, Hueber P, Hoppe B, Matyus J, et al. Dent disease with mutations in OCRL1. Am J Hum Genet. 2005;76:260\u20137.","journal-title":"Am J Hum Genet"},{"key":"417_CR16","doi-asserted-by":"crossref","first-page":"15","DOI":"10.3233\/PGE-2012-005","volume":"1","author":"D Bockenhauer","year":"2012","unstructured":"Bockenhauer D, Bokenkamp A, Nuutinen M, Unwin R, Van\u2019t Hoff W, Sirimanna T, et al. Novel OCRL mutations in patients with Dent-2 disease. J Pediatr Genet. 2012;1:15\u201323.","journal-title":"J Pediatr Genet"},{"key":"417_CR17","doi-asserted-by":"crossref","first-page":"e45605","DOI":"10.1371\/journal.pone.0045605","volume":"7","author":"M Ceol","year":"2012","unstructured":"Ceol M, Tiralongo E, Baelde HJ, Vianello D, Betto G, Marangelli A, et al. Involvement of the tubular ClC-type exchanger ClC-5 in glomeruli of human proteinuric nephropathies. PLoS One. 2012;7:e45605.","journal-title":"PLoS One"},{"key":"417_CR18","doi-asserted-by":"crossref","first-page":"641","DOI":"10.1007\/s00467-019-04317-4","volume":"35","author":"R Preston","year":"2020","unstructured":"Preston R, Naylor RW, Stewart G, Bierzynska A, Saleem MA, Lowe M, et al. A role for OCRL in glomerular function and disease. Pediatr Nephrol. 2020;35:641\u20138.","journal-title":"Pediatr Nephrol"},{"key":"417_CR19","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-020-02219-2","author":"L Gianesello","year":"2020","unstructured":"Gianesello L, Del Prete D, Anglani F, Cal\u00f2 LA. Genetics and phenotypic heterogeneity of Dent disease: the dark side of the moon. Hum Genet. 2020. https:\/\/doi.org\/10.1007\/s00439-020-02219-2.","journal-title":"Hum Genet"},{"key":"417_CR20","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1093\/hmg\/8.2.247","volume":"8","author":"O Devuyst","year":"1999","unstructured":"Devuyst O, Christie PT, Courtoy PJ, Beauwens R, Thakker RV. Intra-renal and subcellular distribution of the human chloride channel, CLC-5, reveals a pathophysiological basis for Dent\u2019s disease. Hum Mol Genet. 1999;8:247\u201357.","journal-title":"Hum Mol Genet"},{"key":"417_CR21","doi-asserted-by":"crossref","first-page":"13705","DOI":"10.1038\/s41598-017-13789-z","volume":"7","author":"L Gianesello","year":"2017","unstructured":"Gianesello L, Priante G, Ceol M, Radu CM, Saleem MA, Simioni P, et al. Albumin uptake in human podocytes: a possible role for the cubilin-amnionless (CUBAM) complex. Sci Rep. 2017;7:13705.","journal-title":"Sci Rep"},{"key":"417_CR22","doi-asserted-by":"crossref","first-page":"1328","DOI":"10.1038\/ki.2011.282","volume":"80","author":"S Kinugasa","year":"2011","unstructured":"Kinugasa S, Tojo A, Sakai T, Tsumura H, Takahashi M, Hirata Y, et al. Selective albuminuria via podocyte albumin transport in puromycin nephrotic rats is attenuated by an inhibitor of NADPH oxidase. Kidney Int. 2011;80:1328\u201338.","journal-title":"Kidney Int"},{"key":"417_CR23","doi-asserted-by":"crossref","first-page":"F941","DOI":"10.1152\/ajprenal.00532.2013","volume":"306","author":"E Dobrinskikh","year":"2014","unstructured":"Dobrinskikh E, Okamura K, Kopp JB, Doctor RB, Blaine J. Human podocytes perform polarized, caveolae-dependent albumin endocytosis. Am J Physiol Renal Physiol. 2014;306:F941\u201351.","journal-title":"Am J Physiol Renal Physiol"},{"key":"417_CR24","doi-asserted-by":"crossref","first-page":"F398","DOI":"10.1152\/ajprenal.00136.2015","volume":"309","author":"K Inoue","year":"2015","unstructured":"Inoue K, Ishibe S. Podocyte endocytosis in the regulation of the glomerular filtration barrier. Am J Physiol Renal Physiol. 2015;309:F398-405.","journal-title":"Am J Physiol Renal Physiol"},{"key":"417_CR25","doi-asserted-by":"crossref","first-page":"1573","DOI":"10.1182\/blood-2003-08-2852","volume":"103","author":"JC Fyfe","year":"2004","unstructured":"Fyfe JC, Madsen M, H\u00f8jrup P, Christensen EI, Tanner SM, de la Chapelle A, et al. The functional cobalamin (vitamin B12)-intrinsic factor receptor is a novel complex of cubilin and amnionless. Blood. 2004;103:1573\u20139.","journal-title":"Blood"},{"key":"417_CR26","doi-asserted-by":"crossref","first-page":"2330","DOI":"10.1681\/ASN.2004110925","volume":"16","author":"G Coudroy","year":"2005","unstructured":"Coudroy G, Gburek J, Kozyraki R, Madsen M, Trugnan G, Moes SK, et al. Contribution of cubilin and amnionless to processing and membrane targeting of cubilin-amnionless complex. J Am Soc Nephrol. 2005;16:2330\u20137.","journal-title":"J Am Soc Nephrol"},{"key":"417_CR27","doi-asserted-by":"crossref","first-page":"369","DOI":"10.1038\/35042597","volume":"408","author":"N Piwon","year":"2000","unstructured":"Piwon N, Gunther W, Schwake M, B\u00f6sl MR, Jentsch TJ. ClC-5 Cl\u2013channel disruption impairs endocytosis in a mouse model for Dent\u2019s disease. Nature. 2000;408:369\u201373.","journal-title":"Nature"},{"key":"417_CR28","doi-asserted-by":"crossref","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, Wilson RC, Hardiman G, Deng P, et al. A novel CLCN5 mutation associated with focal segmental glomerulosclerosis and podocyte injury. Kidney Int Rep. 2018;3:1443\u201353.","journal-title":"Kidney Int Rep"},{"key":"417_CR29","doi-asserted-by":"crossref","first-page":"1979","DOI":"10.2215\/CJN.03400313","volume":"8","author":"FC Fervenza","year":"2013","unstructured":"Fervenza FC. A patient with nephrotic-range proteinuria and focal global glomerulosclerosis. Clin J Am Soc Nephrol. 2013;8:1979\u201387.","journal-title":"Clin J Am Soc Nephrol"},{"key":"417_CR30","doi-asserted-by":"crossref","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, Enders F, Mehta RA, Haskic Z, et al. Prevalence of low molecular weight proteinuria and Dent disease 1 CLCN5 mutations in proteinuric cohorts. Pediatr Nephrol. 2020;35:633\u201340.","journal-title":"Pediatr Nephrol"},{"key":"417_CR31","doi-asserted-by":"crossref","first-page":"e0155504","DOI":"10.1371\/journal.pone.0155504","volume":"11","author":"F Ding","year":"2016","unstructured":"Ding F, Li X, Li B, Guo J, Zhang Y, Ding J. Calpain-mediated cleavage of calcineurin in puromycin aminonucleoside-induced podocyte injury. PLoS One. 2016;11:e0155504.","journal-title":"PLoS One"},{"key":"417_CR32","doi-asserted-by":"crossref","first-page":"2211","DOI":"10.1016\/j.ajpath.2014.05.005","volume":"184","author":"T Kumagai","year":"2014","unstructured":"Kumagai T, Baldwin C, Aoudjit L, Nezvitsky L, Robins R, Jiang R, et al. Protein tyrosine phosphatase 1B inhibition protects against podocyte injury and proteinuria. Am J Pathol. 2014;184:2211\u201324.","journal-title":"Am J Pathol"},{"key":"417_CR33","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1038\/nrneph.2011.151","volume":"8","author":"GI Welsh","year":"2011","unstructured":"Welsh GI, Saleem MA. The podocyte cytoskeleton\u2013key to a functioning glomerulus in health and disease. Nat Rev Nephrol. 2011;8:14\u201321.","journal-title":"Nat Rev Nephrol"},{"key":"417_CR34","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1038\/nm1696","volume":"14","author":"C Wei","year":"2008","unstructured":"Wei C, M\u00f6ller CC, Altintas MM, Li J, Schwarz K, Zacchigna S, et al. Modification of kidney barrier function by the urokinase receptor. Nat Med. 2008;14:55\u201363.","journal-title":"Nat Med"},{"key":"417_CR35","doi-asserted-by":"crossref","first-page":"2168","DOI":"10.2215\/CJN.03710416","volume":"11","author":"X Wang","year":"2016","unstructured":"Wang X, Anglani F, Beara-Lasic L, Mehta AJ, Vaughan LE, Hernandez LH, et al. Glomerular pathology in Dent disease and its association with kidney function. Clin J Am Soc Nephrol. 2016;11:2168\u201376.","journal-title":"Clin J Am Soc Nephrol"},{"key":"417_CR36","unstructured":"Lewis RA, Nussbaum RL, Brewer ED. Lowe syndrome. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews\u00ae\u00a0[Internet]. Seattle (WA): University of Washington, Seattle; 1993\u20132020.\u00a024 July\u00a02001\u00a0[Updated 18 Apr 2019]."},{"key":"417_CR37","doi-asserted-by":"crossref","first-page":"379","DOI":"10.1002\/humu.21391","volume":"32","author":"H Hichri","year":"2011","unstructured":"Hichri H, Rendu J, Monnier N, Coutton C, Dorseuil O, Poussou RV, et al. From Lowe syndrome to Dent disease: correlations between mutations of the OCRL1 gene and clinical and biochemical phenotypes. Hum Mutat. 2011;32:379\u201388.","journal-title":"Hum Mutat"},{"key":"417_CR38","doi-asserted-by":"crossref","first-page":"94","DOI":"10.1016\/j.jpeds.2009.01.049","volume":"155","author":"A B\u00f6kenkamp","year":"2009","unstructured":"B\u00f6kenkamp A, B\u00f6ckenhauer D, Cheong HI, Hoppe B, Tasic V, Unwin R, et al. Dent-2 disease: a mild variant of Lowe syndrome. J Pediatr. 2009;155:94\u20139.","journal-title":"J Pediatr"},{"key":"417_CR39","first-page":"817","volume":"57","author":"IM Olivos-Glander","year":"1995","unstructured":"Olivos-Glander IM, J\u00e4nne PA, Nussbaum RL. The oculocerebrorenal syndrome gene product is a 105-kD protein localized to the Golgi complex. Am J Hum Genet. 1995;57:817\u201323.","journal-title":"Am J Hum Genet"},{"key":"417_CR40","doi-asserted-by":"crossref","first-page":"F790","DOI":"10.1152\/ajpcell.1997.273.3.C790","volume":"273","author":"BC Erb","year":"1997","unstructured":"Erb BC, Velazquez H, Gisser M, Shugrue CA, Reilly RF. cDNA cloning and localization of OCRL-1 in rabbit kidney. Am J Physiol. 1997;273:F790\u20135.","journal-title":"Am J Physiol"},{"key":"417_CR41","doi-asserted-by":"crossref","first-page":"e1005058","DOI":"10.1371\/journal.pgen.1005058","volume":"11","author":"F Oltrabella","year":"2015","unstructured":"Oltrabella F, Pietka G, Ramirez IBR, Mironov A, Starborg T, Drummond IA, et al. The Lowe syndrome protein OCRL1 is required for endocytosis in the zebrafish pronephric tubule. PLoS Genet. 2015;11:e1005058.","journal-title":"PLoS Genet"},{"key":"417_CR42","doi-asserted-by":"crossref","first-page":"3467","DOI":"10.1091\/mbc.e05-02-0120","volume":"16","author":"R Choudhury","year":"2005","unstructured":"Choudhury R, Diao A, Zhang F, Eisenberg E, Saint-Pol A, Williams C, et al. Lowe syndrome protein OCRL1 interacts with clathrin and regulates protein trafficking between endosomes and the trans-Golgi network. Mol Biol Cell. 2005;16:3467\u201379.","journal-title":"Mol Biol Cell"},{"key":"417_CR43","doi-asserted-by":"crossref","first-page":"13501","DOI":"10.1073\/pnas.0405664101","volume":"101","author":"A Ungewickell","year":"2004","unstructured":"Ungewickell A, Ward ME, Ungewickell E, Majerus PW. The inositol polyphosphate 5-phosphatase Ocrl associates with endosomes that are partially coated with clathrin. Proc Natl Acad Sci U S A. 2004;101:13501\u20136.","journal-title":"Proc Natl Acad Sci U S A"},{"key":"417_CR44","doi-asserted-by":"crossref","first-page":"1615","DOI":"10.1111\/j.1523-1755.2004.00571.x","volume":"65","author":"RR Hoopes Jr","year":"2004","unstructured":"Hoopes RR Jr, Raja KM, Koich A, Hueber P, Reid R, Knohl SJ, et al. Evidence for genetic heterogeneity in Dent\u2019s disease. Kidney Int. 2004;65:1615\u201320.","journal-title":"Kidney Int"},{"key":"417_CR45","doi-asserted-by":"crossref","first-page":"3750","DOI":"10.1038\/sj.emboj.7601274","volume":"25","author":"N Hyvola","year":"2006","unstructured":"Hyvola N, Diao A, Mckenzie E, Skippen A, Cockcroft S, Lowe M. Membrane targeting and activation of the Lowe syndrome protein OCRL1 by rab GTPases. EMBO J. 2006;25:3750\u201361.","journal-title":"EMBO J"},{"key":"417_CR46","doi-asserted-by":"crossref","first-page":"1399","DOI":"10.1681\/ASN.2016080913","volume":"28","author":"K Inoue","year":"2017","unstructured":"Inoue K, Balkin DM, Liu L, Nandez R, Wu Y, Tian X, et al. Kidney tubular ablation of Ocrl\/Inpp5b\u00a0phenocopies Lowe syndrome tubulopathy. J Am Soc Nephrol. 2017;28:1399\u2013407.","journal-title":"J Am Soc Nephrol"},{"key":"417_CR47","first-page":"221","volume":"79","author":"HJ Gitelman","year":"1966","unstructured":"Gitelman HJ, Graham JB, Welt LG. A new familial disorder characterized by hypokalemia and hypomagnesemia. Trans Assoc Am Physicians. 1966;79:221\u201335.","journal-title":"Trans Assoc Am Physicians"},{"key":"417_CR48","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1186\/1750-1172-3-22","volume":"3","author":"NVAM Knoers","year":"2008","unstructured":"Knoers NVAM, Levtchenko EN. Gitelman syndrome. Orphanet J Rare Dis. 2008;3:22.","journal-title":"Orphanet J Rare Dis"},{"issue":"Suppl 4","key":"417_CR49","doi-asserted-by":"crossref","first-page":"iv117","DOI":"10.1093\/ndt\/gfu075","volume":"29","author":"N Demoulin","year":"2014","unstructured":"Demoulin N, Aydin S, Cosyns JP, Dahan K, Cornet G, Auberger I, et al. Gitelman syndrome and glomerular proteinuria: a link between loss of sodium-chloride cotransporter and podocyte dysfunction? Nephrol Dial Transplant. 2014;29(Suppl 4):iv117\u201320.","journal-title":"Nephrol Dial Transplant."},{"key":"417_CR50","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1111\/j.1523-1755.2004.00362.x","volume":"65","author":"RV Durvasula","year":"2004","unstructured":"Durvasula RV, Petermann AT, Hiromura K, Blonski M, Pippin J, Mundel P, et al. Activation of a local tissue angiotensin system in podocytes by mechanical strain. Kidney Int. 2004;65:30\u20139.","journal-title":"Kidney Int"},{"key":"417_CR51","doi-asserted-by":"crossref","first-page":"174","DOI":"10.1159\/000057367","volume":"24","author":"G Wolf","year":"1998","unstructured":"Wolf G. Link between angiotensin II and TGF-beta in the kidney. Miner Electrolyte Metab. 1998;24:174\u201380.","journal-title":"Miner Electrolyte Metab"},{"key":"417_CR52","doi-asserted-by":"crossref","first-page":"F1069","DOI":"10.1152\/ajprenal.00345.2004","volume":"288","author":"K Sharma","year":"2005","unstructured":"Sharma K, Cook A, Smith M, Valancius C, Inscho EW. TGF-beta impairs renal autoregulation via generation of ROS. Am J Physiol Renal Physiol. 2005;288:F1069\u201377.","journal-title":"Am J Physiol Renal Physiol"},{"key":"417_CR53","doi-asserted-by":"crossref","first-page":"653","DOI":"10.1053\/j.ajkd.2009.05.009","volume":"54","author":"Y Yamaguchi","year":"2009","unstructured":"Yamaguchi Y, Iwano M, Suzuki D, Nakatani K, Kimura K, Harada K, et al. Epithelial-mesenchymal transition as a potential explanation for podocyte depletion in diabetic nephropathy. Am J Kidney Dis. 2009;54:653\u201364.","journal-title":"Am J Kidney Dis"},{"key":"417_CR54","doi-asserted-by":"crossref","first-page":"1205","DOI":"10.1038\/sj.ki.5002222","volume":"71","author":"RC Wiggins","year":"2007","unstructured":"Wiggins RC. The spectrum of podocytopathies: a unifying view of glomerular diseases. Kidney Int. 2007;71:1205\u201314.","journal-title":"Kidney Int"},{"key":"417_CR55","doi-asserted-by":"crossref","first-page":"1626","DOI":"10.2337\/diabetes.54.6.1626","volume":"54","author":"G Wolf","year":"2005","unstructured":"Wolf G, Chen S, Ziyadeh FN. From the periphery of the glomerular capillary wall toward the center of disease: podocyte injury comes of age in diabetic nephropathy. Diabetes. 2005;54:1626\u201334.","journal-title":"Diabetes"},{"key":"417_CR56","doi-asserted-by":"crossref","first-page":"1779","DOI":"10.2337\/db10-1110","volume":"60","author":"M Herman-Edelstein","year":"2011","unstructured":"Herman-Edelstein M, Thomas MC, Thallas-Bonke V, Saleem M, Cooper ME, Kantharidis P. Dedifferentiation of immortalized human podocytes in response to transforming growth factor-beta: a model for diabetic podocytopathy. Diabetes. 2011;60:1779\u201388.","journal-title":"Diabetes"},{"key":"417_CR57","doi-asserted-by":"crossref","first-page":"P3","DOI":"10.1159\/000066656","volume":"93","author":"G Wolf","year":"2003","unstructured":"Wolf G, Butzmann U, Wenzel UO. The renin-angiotensin system and progression of renal disease: from hemodynamics to cell biology. Nephron Physiol. 2003;93:P3-13.","journal-title":"Nephron Physiol"},{"key":"417_CR58","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1097\/01.ASN.0000102476.50041.44","volume":"15","author":"PT Brinkkoetter","year":"2004","unstructured":"Brinkkoetter PT, Holtgrefe S, Van Der Woude FJ, Yard BA. Angiotensin II type 1-receptor mediated changes in heparansulfate proteoglycans in human SV40 transformed podocytes. J Am Soc Nephrol. 2004;15:33\u201340.","journal-title":"J Am Soc Nephrol"},{"key":"417_CR59","doi-asserted-by":"crossref","first-page":"17513","DOI":"10.1073\/pnas.0507255102","volume":"102","author":"C Caruso-Neves","year":"2005","unstructured":"Caruso-Neves C, Kwon SH, Guggino WB. Albumin endocytosis in proximal tubule cells is modulated by angiotensin II through an AT2 receptor-mediated protein kinase B activation. Proc Natl Acad Sci U S A. 2005;102:17513\u20138.","journal-title":"Proc Natl Acad Sci U S A"},{"key":"417_CR60","doi-asserted-by":"crossref","first-page":"495","DOI":"10.1007\/s10157-012-0624-4","volume":"16","author":"N Takahashi","year":"2012","unstructured":"Takahashi N, Kimura H, Mizuno S, Hara M, Hirayama Y, Kurosawa H, et al. Severe intraglomerular detachment of podocytes in a Gitelman syndrome patient. Clin Exp Nephrol. 2012;16:495\u2013500.","journal-title":"Clin Exp Nephrol"},{"key":"417_CR61","doi-asserted-by":"crossref","first-page":"319","DOI":"10.1038\/ng0498-319","volume":"18","author":"M Town","year":"1998","unstructured":"Town M, Jean G, Cherqui S, Attard M, Forestier L, Whitmore SA, et al. A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis. Nat Genet. 1998;18:319\u201324.","journal-title":"Nat Genet"},{"key":"417_CR62","doi-asserted-by":"crossref","first-page":"1052","DOI":"10.1038\/ki.2010.341","volume":"78","author":"M Chandra","year":"2010","unstructured":"Chandra M, Stokes MB, Kaskel F. Multinucleated podocytes: a diagnostic clue to cystinosis. Kidney Int. 2010;78:1052.","journal-title":"Kidney Int"},{"key":"417_CR63","doi-asserted-by":"crossref","first-page":"123","DOI":"10.4103\/0971-4065.78067","volume":"21","author":"A Sharma","year":"2011","unstructured":"Sharma A, Gupta R, Sethi SK, Bagga A, Dinda AK. Giant cell transformation of podocytes: a unique histological feature associated with cystinosis. Indian J Nephrol. 2011;21:123\u20135.","journal-title":"Indian J Nephrol"},{"key":"417_CR64","doi-asserted-by":"crossref","first-page":"42583","DOI":"10.1038\/srep42583","volume":"7","author":"MA Elmonem","year":"2017","unstructured":"Elmonem MA, Khalil R, Khodaparast L, Khodaparast L, Arcolino FO, Morgan J, et al. Cystinosis (ctns) zebrafish mutant shows pronephric glomerular and tubular dysfunction. Sci Rep. 2017;7:42583.","journal-title":"Sci Rep"},{"key":"417_CR65","doi-asserted-by":"crossref","first-page":"1835","DOI":"10.1681\/ASN.2010040378","volume":"21","author":"J Peti-Peterdi","year":"2010","unstructured":"Peti-Peterdi J, Sipos A. A high-powered view of the filtration barrier. J Am Soc Nephrol. 2010;21:1835\u201341.","journal-title":"J Am Soc Nephrol"},{"key":"417_CR66","doi-asserted-by":"crossref","first-page":"1037","DOI":"10.1016\/j.kint.2016.01.013","volume":"89","author":"EA Ivanova","year":"2016","unstructured":"Ivanova EA, Arcolino FO, Elmonem MA, Rastaldi MP, Giardino L, Cornelissen EM, et al. Cystinosin deficiency causes podocyte damage and loss associated with increased cell motility. Kidney Int. 2016;89:1037\u201348.","journal-title":"Kidney Int"},{"key":"417_CR67","doi-asserted-by":"crossref","first-page":"1288","DOI":"10.1038\/nm.3313","volume":"19","author":"G Canaud","year":"2013","unstructured":"Canaud G, Bienaime F, Viau A, Treins C, Baron W, Nguyen C, et al. AKT2 is essential to maintain podocyte viability and function during chronic kidney disease. Nat Med. 2013;19:1288\u201396.","journal-title":"Nat Med"},{"key":"417_CR68","doi-asserted-by":"crossref","first-page":"807","DOI":"10.1172\/JCI200112367","volume":"108","author":"M Schiffer","year":"2001","unstructured":"Schiffer M, Bitzer M, Roberts IS, Kopp JB, ten Dijke P, Mundel P, et al. Apoptosis in podocytes induced by TGF-beta and Smad7. J Clin Invest. 2001;108:807\u201316.","journal-title":"J Clin Invest"},{"key":"417_CR69","doi-asserted-by":"crossref","first-page":"2985","DOI":"10.1681\/ASN.2006040356","volume":"17","author":"C R\u00fcster","year":"2006","unstructured":"R\u00fcster C, Wolf G. Renin-angiotensin-aldosterone system and progression of renal disease. J Am Soc Nephrol. 2006;17:2985\u201391.","journal-title":"J Am Soc Nephrol"},{"key":"417_CR70","doi-asserted-by":"crossref","first-page":"3211","DOI":"10.1681\/ASN.2004121055","volume":"16","author":"DT Wu","year":"2005","unstructured":"Wu DT, Bitzer M, Ju W, Mundel P, B\u00f6ttinger EP. TGF-beta concentration specifies differential signaling profiles of growth arrest\/differentiation and apoptosis in podocytes. J Am Soc Nephrol. 2005;16:3211\u201321.","journal-title":"J Am Soc Nephrol"},{"key":"417_CR71","doi-asserted-by":"crossref","first-page":"1496","DOI":"10.1038\/nm.3363","volume":"19","author":"K Hasegawa","year":"2013","unstructured":"Hasegawa K, Wakino S, Simic P, Sakamaki Y, Minakuchi H, Fujimura K, et al. Renal tubular Sirt1 attenuates diabetic albuminuria by epigenetically suppressing Claudin-1 overexpression in podocytes. Nat Med. 2013;19:1496\u2013504.","journal-title":"Nat Med"}],"container-title":["World Journal of Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12519-021-00417-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s12519-021-00417-0\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12519-021-00417-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,7,2]],"date-time":"2021-07-02T15:19:23Z","timestamp":1625239163000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s12519-021-00417-0"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,2,24]]},"references-count":71,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2021,6]]}},"alternative-id":["417"],"URL":"https:\/\/doi.org\/10.1007\/s12519-021-00417-0","relation":{},"ISSN":["1708-8569","1867-0687"],"issn-type":[{"value":"1708-8569","type":"print"},{"value":"1867-0687","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,2,24]]},"assertion":[{"value":"8 October 2020","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"20 January 2021","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"24 February 2021","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Compliance with ethical standards"}},{"value":"Not needed.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical approval"}},{"value":"All authors disclosed no conflict of interest.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}}]}}