{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T03:32:59Z","timestamp":1747193579710,"version":"3.40.5"},"reference-count":0,"publisher":"S. Karger AG","issue":"3","license":[{"start":{"date-parts":[[2021,10,11]],"date-time":"2021-10-11T00:00:00Z","timestamp":1633910400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2021,10,11]],"date-time":"2021-10-11T00:00:00Z","timestamp":1633910400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Case Rep Nephrol Dial"],"abstract":"<jats:p>Alport syndrome is a heterogeneous genetic disease involving the basement membrane of the glomeruli, inner ear, retina, and lens capsule. It typically manifests as progressive glomerulopathy that frequently results in end-stage renal disease, high-tone sensorineural deafness, and ocular abnormalities of anterior lenticonus and yellow and white dots and flecks on the macular of the retina. In this report, we describe the cases of 2 siblings: 15- and 13-year-old boys of pure African descent with the &lt;i&gt;COL4A5&lt;\/i&gt; gene mutation. Both children had the classical features of Alport syndrome haematuria, proteinuria, progressive sensorineural high-tone hearing loss, and ocular abnormalities. Their renal abnormalities initially regressed on therapy with angiotensin-converting enzyme inhibitors but reoccurred, depicting the need for early diagnosis as the early institution of this therapy before significant glomerulopathy is advocated. <\/jats:p>","DOI":"10.1159\/000519076","type":"journal-article","created":{"date-parts":[[2021,10,11]],"date-time":"2021-10-11T21:01:27Z","timestamp":1633986087000},"page":"308-313","source":"Crossref","is-referenced-by-count":0,"title":["A Case Report of &lt;b&gt;&lt;i&gt;COL4A5&lt;\/i&gt;&lt;\/b&gt; Gene Mutation Alport Syndrome in 2 Native African Children"],"prefix":"10.1159","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7315-2393","authenticated-orcid":false,"given":"Emmanuel","family":"Oduware","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8857-7175","authenticated-orcid":false,"given":"Nosakhare Joyce","family":"Iduoriyekemwen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael","family":"Ibadin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Henry","family":"Aikhionbare","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2021,10,11]]},"container-title":["Case Reports in Nephrology and Dialysis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/519076","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/519076","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T15:22:13Z","timestamp":1745421733000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000519076"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,10,11]]},"references-count":0,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2022,1,6]]}},"URL":"https:\/\/doi.org\/10.1159\/000519076","archive":["Portico"],"relation":{},"ISSN":["2296-9705"],"issn-type":[{"type":"electronic","value":"2296-9705"}],"subject":[],"published":{"date-parts":[[2021,10,11]]}}}