{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T02:49:32Z","timestamp":1747190972101,"version":"3.40.5"},"reference-count":16,"publisher":"Wiley","license":[{"start":{"date-parts":[[2022,1,4]],"date-time":"2022-01-04T00:00:00Z","timestamp":1641254400000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004869","name":"University of M\u00fcnster","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100004869","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Case Reports in Nephrology"],"published-print":{"date-parts":[[2022,1,4]]},"abstract":"<jats:p>Background. Alport syndrome results from a hereditary defect of collagen IV synthesis. This causes progressive glomerular disease, ocular abnormalities, and inner ear impairment. Case Presentation. Herein, we present a case of Alport syndrome in a 28-year-old woman caused by a novel mutation (Gly1436del) in the COL4A4 gene that was not unveiled until her first pregnancy. Within the 29th pregnancy week, our patient presented with massive proteinuria and nephrotic syndrome. Light microscopic examination of a kidney biopsy showed typical histological features of segmental sclerosis, and electron microscopy revealed extensive podocyte alterations as well as thickness of glomerular basement membranes with splitting of the lamina densa. One and a half years after childbirth, renal function deteriorated to a preterminal stage, whereas nephrotic syndrome subsided quickly after delivery. Conclusion. This case report highlights the awareness of atypical AS courses and emphasizes the importance of genetic testing in such cases.<\/jats:p>","DOI":"10.1155\/2022\/5243137","type":"journal-article","created":{"date-parts":[[2022,1,4]],"date-time":"2022-01-04T18:05:06Z","timestamp":1641319506000},"page":"1-5","source":"Crossref","is-referenced-by-count":1,"title":["A Novel Homozygous Mutation in the COL4A4 Gene (Gly1436del) Causing Alport Syndrome Exposed by Pregnancy: A Case Report and Review of the Literature"],"prefix":"10.1155","volume":"2022","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1136-438X","authenticated-orcid":true,"given":"Ulrich","family":"Jehn","sequence":"first","affiliation":[{"name":"Department of Medicine D, Division of General Internal Medicine, Nephrology and Rheumatology, University Hospital of M\u00fcnster, M\u00fcnster 48149, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cornelie","family":"M\u00fcller-Hofstede","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, University Hospital of M\u00fcnster, M\u00fcnster 48149, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Barbara","family":"Heitplatz","sequence":"additional","affiliation":[{"name":"Gerhard Domagk Institute of Pathology, University Hospital M\u00fcnster, M\u00fcnster 48149, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Veerle","family":"Van Marck","sequence":"additional","affiliation":[{"name":"Gerhard Domagk Institute of Pathology, University Hospital M\u00fcnster, M\u00fcnster 48149, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stefan","family":"Reuter","sequence":"additional","affiliation":[{"name":"Department of Medicine D, Division of General Internal Medicine, Nephrology and Rheumatology, University Hospital of M\u00fcnster, M\u00fcnster 48149, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hermann","family":"Pavenst\u00e4dt","sequence":"additional","affiliation":[{"name":"Department of Medicine D, Division of General Internal Medicine, Nephrology and Rheumatology, University Hospital of M\u00fcnster, M\u00fcnster 48149, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Britta","family":"George","sequence":"additional","affiliation":[{"name":"Department of Medicine D, Division of General Internal Medicine, Nephrology and Rheumatology, University Hospital of M\u00fcnster, M\u00fcnster 48149, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","reference":[{"key":"1","doi-asserted-by":"publisher","DOI":"10.1016\/j.kint.2017.12.018"},{"key":"2","doi-asserted-by":"publisher","DOI":"10.1038\/nrneph.2012.259"},{"key":"3","doi-asserted-by":"publisher","DOI":"10.1159\/000492438"},{"issue":"27","key":"4","doi-asserted-by":"crossref","first-page":"5602","DOI":"10.2174\/0929867328666210108113500","article-title":"Alport syndrome: a comprehensive review on genetics, pathophysiology, histology, clinical, and therapeutic perspectives","volume":"28","author":"A. 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