{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,27]],"date-time":"2025-10-27T07:11:36Z","timestamp":1761549096265,"version":"build-2065373602"},"reference-count":48,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2022,5,1]],"date-time":"2022-05-01T00:00:00Z","timestamp":1651363200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2022,5,1]],"date-time":"2022-05-01T00:00:00Z","timestamp":1651363200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["ackdjournal.org","clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Advances in Chronic Kidney Disease"],"published-print":{"date-parts":[[2022,5]]},"DOI":"10.1053\/j.ackd.2021.08.003","type":"journal-article","created":{"date-parts":[[2022,9,6]],"date-time":"2022-09-06T19:40:32Z","timestamp":1662493232000},"page":"225-230","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":2,"title":["What the Adult Nephrologist Should Know About Alport Syndrome"],"prefix":"10.1053","volume":"29","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0839-4310","authenticated-orcid":false,"given":"Clifford E.","family":"Kashtan","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1053\/j.ackd.2021.08.003_bib1","doi-asserted-by":"crossref","first-page":"100590","DOI":"10.1016\/j.jbc.2021.100590","article-title":"Collagen IV\u03b1345 dysfunction in glomerular basement membrane diseases. I. Discovery of a COL4A3 variant in familial Goodpasture's and Alport diseases","volume":"296","author":"Pokidysheva","year":"2021","journal-title":"J Biol Chem"},{"key":"10.1053\/j.ackd.2021.08.003_bib2","doi-asserted-by":"crossref","DOI":"10.2215\/CJN.19171220","article-title":"Genetic basis of type IV collagen disorders of the kidney","author":"Quinlan","year":"2021","journal-title":"Clin J Am Soc Nephrol"},{"key":"10.1053\/j.ackd.2021.08.003_bib3","series-title":"Gene Reviews [Internet}","first-page":"1993","article-title":"Alport syndrome","author":"Kashtan","year":"2001"},{"issue":"6","key":"10.1053\/j.ackd.2021.08.003_bib4","doi-asserted-by":"crossref","first-page":"1947","DOI":"10.1046\/j.1523-1755.2002.00379.x","article-title":"COL4A3\/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndrome","volume":"61","author":"Longo","year":"2002","journal-title":"Kidney Int"},{"issue":"6","key":"10.1053\/j.ackd.2021.08.003_bib5","doi-asserted-by":"crossref","first-page":"1025","DOI":"10.1093\/ckj\/sfz176","article-title":"Prevalence of clinical, pathological and molecular features of glomerular basement membrane nephropathy caused by COL4A3 or COL4A4 mutations: a systemic review","volume":"13","author":"Matthaiou","year":"2020","journal-title":"Clin Kidney J"},{"issue":"5","key":"10.1053\/j.ackd.2021.08.003_bib6","doi-asserted-by":"crossref","first-page":"1045","DOI":"10.1016\/j.kint.2017.12.018","article-title":"Alport syndrome: a unified classification of genetic disorders of collagen IV \u03b1345: a position paper of the Alport Syndrome Classification Working Group","volume":"93","author":"Kashtan","year":"2018","journal-title":"Kidney Int"},{"key":"10.1053\/j.ackd.2021.08.003_bib7","doi-asserted-by":"crossref","first-page":"1243","DOI":"10.1016\/S0140-6736(01)83688-6","article-title":"\"Idiopathic\" or congenital, hereditary and familial hematuria","volume":"1","author":"Guthrie","year":"1902","journal-title":"Lancet"},{"key":"10.1053\/j.ackd.2021.08.003_bib8","first-page":"368","article-title":"Hereditary familial congenital hemorrhagic nephritis occurring in sixteen individuals in three generations","volume":"3","author":"Hurst","year":"1923","journal-title":"Guy's Hosp Rec"},{"issue":"3454","key":"10.1053\/j.ackd.2021.08.003_bib9","doi-asserted-by":"crossref","first-page":"504","DOI":"10.1136\/bmj.1.3454.504","article-title":"Hereditary familial congenital haemorrhagic nephritis","volume":"1","author":"Alport","year":"1927","journal-title":"Br Med J"},{"issue":"3","key":"10.1053\/j.ackd.2021.08.003_bib10","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1016\/0888-7543(89)90339-X","article-title":"Localization of the gene for classic Alport syndrome","volume":"4","author":"Flinter","year":"1989","journal-title":"Genomics"},{"issue":"4960","key":"10.1053\/j.ackd.2021.08.003_bib11","doi-asserted-by":"crossref","first-page":"1224","DOI":"10.1126\/science.2349482","article-title":"Identification of mutations in the COL4A5 collagen gene in Alport syndrome","volume":"248","author":"Barker","year":"1990","journal-title":"Science"},{"issue":"5","key":"10.1053\/j.ackd.2021.08.003_bib12","doi-asserted-by":"crossref","first-page":"1329","DOI":"10.1086\/302106","article-title":"Determination of the genomic structure of the COL4A4 gene and of novel mutations causing autosomal recessive Alport syndrome","volume":"63","author":"Boye","year":"1998","journal-title":"Am J Hum Genet"},{"issue":"1","key":"10.1053\/j.ackd.2021.08.003_bib13","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1681\/ASN.V12197","article-title":"Structure of the human type IV collagen gene COL4A3 and mutations in autosomal Alport syndrome","volume":"12","author":"Heidet","year":"2001","journal-title":"J Am Soc Nephrol"},{"issue":"4","key":"10.1053\/j.ackd.2021.08.003_bib14","doi-asserted-by":"crossref","first-page":"649","DOI":"10.1681\/ASN.V114649","article-title":"X-linked Alport syndrome: natural history in 195 families and genotype- phenotype correlations in males","volume":"11","author":"Jais","year":"2000","journal-title":"J Am Soc Nephrol"},{"issue":"5","key":"10.1053\/j.ackd.2021.08.003_bib15","doi-asserted-by":"crossref","first-page":"876","DOI":"10.1681\/ASN.2009070784","article-title":"Genotype-phenotype correlation in X-linked Alport syndrome","volume":"21","author":"Bekheirnia","year":"2010","journal-title":"J Am Soc Nephrol"},{"issue":"9","key":"10.1053\/j.ackd.2021.08.003_bib16","doi-asserted-by":"crossref","first-page":"2719","DOI":"10.1007\/s00467-021-05040-9","article-title":"Genotype-phenotype correlations and nephroprotective effects of RAAS inhibition in patients with autosomal recessive Alport syndrome","volume":"36","author":"Zhang","year":"2021","journal-title":"Pediatr Nephrol"},{"issue":"2","key":"10.1053\/j.ackd.2021.08.003_bib17","doi-asserted-by":"crossref","first-page":"142","DOI":"10.1056\/NEJMoa1806891","article-title":"Diagnostic utility of exome sequencing for kidney disease","volume":"380","author":"Groopman","year":"2019","journal-title":"N Engl J Med"},{"key":"10.1053\/j.ackd.2021.08.003_bib18","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1159\/000424804","article-title":"Alport syndrome--clinical phenotypes, incidence, and pathology","volume":"117","author":"Gregory","year":"1996","journal-title":"Contrib Nephrol"},{"issue":"6","key":"10.1053\/j.ackd.2021.08.003_bib19","first-page":"1157","article-title":"A mutation causing Alport syndrome with tardive hearing loss is common in the western United States","volume":"58","author":"Barker","year":"1996","journal-title":"Am J Hum Genet"},{"issue":"5","key":"10.1053\/j.ackd.2021.08.003_bib20","doi-asserted-by":"crossref","first-page":"681","DOI":"10.1007\/s004390050429","article-title":"Common ancestry of three Ashkenazi-American families with Alport syndrome and COL4A5 R1677Q","volume":"99","author":"Barker","year":"1997","journal-title":"Hum Genet"},{"issue":"6","key":"10.1053\/j.ackd.2021.08.003_bib21","doi-asserted-by":"crossref","first-page":"1451","DOI":"10.1016\/j.kint.2020.10.040","article-title":"Mild X-linked Alport syndrome due to the COL4A5 G624D variant originating in the Middle Ages is predominant in Central\/East Europe and causes kidney failure in midlife","volume":"99","author":"\u017burowska","year":"2021","journal-title":"Kidney Int"},{"issue":"6","key":"10.1053\/j.ackd.2021.08.003_bib22","doi-asserted-by":"crossref","first-page":"961","DOI":"10.1093\/ndt\/gfv325","article-title":"Collagen (COL4A) mutations are the most frequent mutations underlying adult focal segmental glomerulosclerosis","volume":"31","author":"Gast","year":"2016","journal-title":"Nephrol Dial Transpl"},{"issue":"4","key":"10.1053\/j.ackd.2021.08.003_bib23","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1159\/000435789","article-title":"Carriers of autosomal recessive Alport syndrome with thin basement membrane nephropathy presenting as focal segmental glomerulosclerosis in later life","volume":"130","author":"Deltas","year":"2015","journal-title":"Nephron"},{"issue":"6","key":"10.1053\/j.ackd.2021.08.003_bib24","doi-asserted-by":"crossref","first-page":"1253","DOI":"10.1038\/ki.2014.305","article-title":"Rare hereditary COL4A3\/COL4A4 variants may be mistaken for familial focal segmental glomerulosclerosis","volume":"86","author":"Malone","year":"2014","journal-title":"Kidney Int"},{"issue":"3","key":"10.1053\/j.ackd.2021.08.003_bib25","doi-asserted-by":"crossref","first-page":"364","DOI":"10.1681\/ASN.2012020148","article-title":"Expert guidelines for the management of Alport syndrome and thin basement membrane nephropathy","volume":"24","author":"Savige","year":"2013","journal-title":"J Am Soc Nephrol"},{"issue":"1","key":"10.1053\/j.ackd.2021.08.003_bib26","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1007\/s00467-012-2138-4","article-title":"Clinical practice recommendations for the treatment of Alport syndrome: a statement of the Alport syndrome Research Collaborative","volume":"28","author":"Kashtan","year":"2013","journal-title":"Pediatr Nephrol"},{"issue":"3","key":"10.1053\/j.ackd.2021.08.003_bib27","doi-asserted-by":"crossref","first-page":"711","DOI":"10.1007\/s00467-020-04819-6","article-title":"Clinical practice recommendations for the diagnosis and management of Alport syndrome in children, adolescents, and young adults-an update for 2020","volume":"36","author":"Kashtan","year":"2021","journal-title":"Pediatr Nephrol"},{"issue":"3","key":"10.1053\/j.ackd.2021.08.003_bib28","doi-asserted-by":"crossref","first-page":"731","DOI":"10.1007\/s00467-020-04892-x","article-title":"Correction to: clinical practice recommendations for the diagnosis and management of Alport syndrome in children, adolescents, and young adults-an update for 2020","volume":"36","author":"Kashtan","year":"2021","journal-title":"Pediatr Nephrol"},{"issue":"2","key":"10.1053\/j.ackd.2021.08.003_bib29","doi-asserted-by":"crossref","first-page":"438","DOI":"10.1046\/j.1523-1755.2003.00779.x","article-title":"Preemptive ramipril therapy delays renal failure and reduces renal fibrosis in COL4A3-knockout mice with Alport syndrome","volume":"63","author":"Gross","year":"2003","journal-title":"Kidney Int"},{"issue":"5","key":"10.1053\/j.ackd.2021.08.003_bib30","doi-asserted-by":"crossref","first-page":"494","DOI":"10.1038\/ki.2011.407","article-title":"Early angiotensin-converting enzyme inhibition in Alport syndrome delays renal failure and improves life expectancy","volume":"81","author":"Gross","year":"2012","journal-title":"Kidney Int"},{"issue":"6","key":"10.1053\/j.ackd.2021.08.003_bib31","doi-asserted-by":"crossref","first-page":"1605","DOI":"10.1016\/j.kint.2020.06.038","article-title":"Genotype-phenotype correlation and the effects of treatment with angiotensin-targeting drugs in Japanese patients with male X-linked Alport syndrome","volume":"98","author":"Yamamura","year":"2020","journal-title":"Kidney Int"},{"issue":"8","key":"10.1053\/j.ackd.2021.08.003_bib32","doi-asserted-by":"crossref","first-page":"779","DOI":"10.1038\/ki.2011.452","article-title":"Incidence of renal failure and nephroprotection by RAAS inhibition in heterozygous carriers of X-chromosomal and autosomal recessive Alport mutations","volume":"81","author":"Temme","year":"2012","journal-title":"Kidney Int"},{"key":"10.1053\/j.ackd.2021.08.003_bib33","doi-asserted-by":"crossref","first-page":"1169","DOI":"10.2147\/JMDH.S284784","article-title":"Multidisciplinary management of Alport syndrome: current Perspectives","volume":"14","author":"Kashtan","year":"2021","journal-title":"J Multidiscip Healthc"},{"issue":"5","key":"10.1053\/j.ackd.2021.08.003_bib34","doi-asserted-by":"crossref","first-page":"739","DOI":"10.1053\/j.ajkd.2020.04.003","article-title":"Should renin-angiotensin system blockade Be Avoided in patients with declining kidney function?","volume":"76","author":"Weir","year":"2020","journal-title":"Am J Kidney Dis"},{"issue":"3","key":"10.1053\/j.ackd.2021.08.003_bib35","doi-asserted-by":"crossref","first-page":"180","DOI":"10.1159\/000513777","article-title":"Study Design and Baseline Characteristics of the cardinal trial: a Phase 3 study of bardoxolone methyl in patients with Alport syndrome","volume":"52","author":"Chertow","year":"2021","journal-title":"Am J Nephrol"},{"issue":"4","key":"10.1053\/j.ackd.2021.08.003_bib36","doi-asserted-by":"crossref","first-page":"379","DOI":"10.1042\/CS20191276","article-title":"SGLT2 inhibitors - a potential treatment for Alport syndrome","volume":"134","author":"Mabillard","year":"2020","journal-title":"Clin Sci (Lond)"},{"issue":"1","key":"10.1053\/j.ackd.2021.08.003_bib37","doi-asserted-by":"crossref","first-page":"215","DOI":"10.1016\/j.kint.2021.03.033","article-title":"A pre-specified analysis of the DAPA-CKD trial demonstrates the effects of dapagliflozin on major adverse kidney events in patients with IgA nephropathy","volume":"100","author":"Wheeler","year":"2021","journal-title":"Kidney Int"},{"issue":"10","key":"10.1053\/j.ackd.2021.08.003_bib38","doi-asserted-by":"crossref","first-page":"2603","DOI":"10.1097\/01.ASN.0000090034.71205.74","article-title":"X-linked Alport syndrome: natural history and genotype-phenotype correlations in girls and women belonging to 195 families: a \"European Community Alport Syndrome Concerted Action\" study","volume":"14","author":"Jais","year":"2003","journal-title":"J Am Soc Nephrol"},{"issue":"4","key":"10.1053\/j.ackd.2021.08.003_bib39","doi-asserted-by":"crossref","first-page":"739","DOI":"10.1007\/s00404-015-3893-9","article-title":"Pregnancy outcomes in patients with Alport syndrome","volume":"293","author":"Yefet","year":"2016","journal-title":"Arch Gynecol Obstet"},{"issue":"6","key":"10.1053\/j.ackd.2021.08.003_bib40","doi-asserted-by":"crossref","first-page":"1421","DOI":"10.1007\/s00404-018-4720-x","article-title":"Alport syndrome and pregnancy: a case series and literature review","volume":"297","author":"Brunini","year":"2018","journal-title":"Arch Gynecol Obstet"},{"issue":"4","key":"10.1053\/j.ackd.2021.08.003_bib41","doi-asserted-by":"crossref","first-page":"1223","DOI":"10.1007\/s11255-012-0154-8","article-title":"Pregnancy in women with Alport syndrome","volume":"45","author":"Crovetto","year":"2013","journal-title":"Int Urol Nephrol"},{"issue":"6","key":"10.1053\/j.ackd.2021.08.003_bib42","doi-asserted-by":"crossref","first-page":"1182","DOI":"10.1097\/AOG.0000000000003256","article-title":"Chronic kidney disease and pregnancy","volume":"133","author":"Hui","year":"2019","journal-title":"Obstet Gynecol"},{"issue":"5","key":"10.1053\/j.ackd.2021.08.003_bib43","doi-asserted-by":"crossref","first-page":"844","DOI":"10.2215\/CJN.07911109","article-title":"Pregnancy and chronic kidney disease: a challenge in all CKD stages","volume":"5","author":"Piccoli","year":"2010","journal-title":"Clin J Am Soc Nephrol"},{"key":"10.1053\/j.ackd.2021.08.003_bib44","doi-asserted-by":"crossref","first-page":"e3453","DOI":"10.1002\/dmrr.3453","article-title":"Increased risk of major congenital malformations in early pregnancy use of angiotensin-converting-enzyme inhibitors and angiotensin-receptor-blockers: a meta-analysis","author":"Fu","year":"2021","journal-title":"Diabetes Metab Res Rev"},{"issue":"12","key":"10.1053\/j.ackd.2021.08.003_bib45","doi-asserted-by":"crossref","first-page":"1969","DOI":"10.2215\/CJN.02190312","article-title":"Outcomes of male patients with Alport syndrome undergoing renal replacement therapy","volume":"7","author":"Temme","year":"2012","journal-title":"Clin J Am Soc Nephrol"},{"issue":"5","key":"10.1053\/j.ackd.2021.08.003_bib46","doi-asserted-by":"crossref","first-page":"1626","DOI":"10.1093\/ndt\/gfn635","article-title":"Living donor kidney transplantation from relatives with mild urinary abnormalities in Alport syndrome: long-term risk, benefit and outcome","volume":"24","author":"Gross","year":"2009","journal-title":"Nephrol Dial Transpl"},{"key":"10.1053\/j.ackd.2021.08.003_bib47","doi-asserted-by":"crossref","first-page":"267","DOI":"10.2147\/IJNRD.S150539","article-title":"Renal transplantation in patients with Alport syndrome: patient selection, outcomes, and donor evaluation","volume":"11","author":"Kashtan","year":"2018","journal-title":"Int J Nephrol Renovasc Dis"},{"issue":"3","key":"10.1053\/j.ackd.2021.08.003_bib48","doi-asserted-by":"crossref","first-page":"762","DOI":"10.1046\/j.1523-1755.1998.00794.x","article-title":"Targets of alloantibodies in Alport anti-glomerular basement membrane disease after renal transplantation","volume":"53","author":"Brainwood","year":"1998","journal-title":"Kidney Int"}],"container-title":["Advances in Chronic Kidney Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S154855952100077X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S154855952100077X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,27]],"date-time":"2025-10-27T07:05:46Z","timestamp":1761548746000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S154855952100077X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,5]]},"references-count":48,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2022,5]]}},"alternative-id":["S154855952100077X"],"URL":"https:\/\/doi.org\/10.1053\/j.ackd.2021.08.003","relation":{},"ISSN":["1548-5595"],"issn-type":[{"type":"print","value":"1548-5595"}],"subject":[],"published":{"date-parts":[[2022,5]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"What the Adult Nephrologist Should Know About Alport Syndrome","name":"articletitle","label":"Article Title"},{"value":"Advances in Chronic Kidney Disease","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1053\/j.ackd.2021.08.003","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2021 by the National Kidney Foundation, Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}