A Case Report of COL4A5 Gene Mutation Alport Syndrome in 2 Native African Children

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 abnormalitie...

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Autores principales:	Emmanuel Oduware, Nosakhare Joyce Iduoriyekemwen, Michael Ibadin, Henry Aikhionbare
Formato:	article
Lenguaje:	EN
Publicado:	Karger Publishers 2021
Materias:	col4a5 gene mutation children alport syndrome Diseases of the genitourinary system. Urology RC870-923
Acceso en línea:	https://doaj.org/article/82dd3681c5114ec091d337bb0b1f3fa9
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spelling	oai:doaj.org-article:82dd3681c5114ec091d337bb0b1f3fa92021-11-11T10:40:45ZA Case Report of COL4A5 Gene Mutation Alport Syndrome in 2 Native African Children2296-970510.1159/000519076https://doaj.org/article/82dd3681c5114ec091d337bb0b1f3fa92021-10-01T00:00:00Zhttps://www.karger.com/Article/FullText/519076https://doaj.org/toc/2296-9705Alport 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 COL4A5 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.Emmanuel OduwareNosakhare Joyce IduoriyekemwenMichael IbadinHenry AikhionbareKarger Publishersarticlecol4a5 gene mutationchildrenalport syndromeDiseases of the genitourinary system. UrologyRC870-923ENCase Reports in Nephrology and Dialysis, Vol 11, Iss 3, Pp 308-313 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	col4a5 gene mutation children alport syndrome Diseases of the genitourinary system. Urology RC870-923
spellingShingle	col4a5 gene mutation children alport syndrome Diseases of the genitourinary system. Urology RC870-923 Emmanuel Oduware Nosakhare Joyce Iduoriyekemwen Michael Ibadin Henry Aikhionbare A Case Report of COL4A5 Gene Mutation Alport Syndrome in 2 Native African Children
description	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 COL4A5 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.
format	article
author	Emmanuel Oduware Nosakhare Joyce Iduoriyekemwen Michael Ibadin Henry Aikhionbare
author_facet	Emmanuel Oduware Nosakhare Joyce Iduoriyekemwen Michael Ibadin Henry Aikhionbare
author_sort	Emmanuel Oduware
title	A Case Report of COL4A5 Gene Mutation Alport Syndrome in 2 Native African Children
title_short	A Case Report of COL4A5 Gene Mutation Alport Syndrome in 2 Native African Children
title_full	A Case Report of COL4A5 Gene Mutation Alport Syndrome in 2 Native African Children
title_fullStr	A Case Report of COL4A5 Gene Mutation Alport Syndrome in 2 Native African Children
title_full_unstemmed	A Case Report of COL4A5 Gene Mutation Alport Syndrome in 2 Native African Children
title_sort	case report of col4a5 gene mutation alport syndrome in 2 native african children
publisher	Karger Publishers
publishDate	2021
url	https://doaj.org/article/82dd3681c5114ec091d337bb0b1f3fa9
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A Case Report of COL4A5 Gene Mutation Alport Syndrome in 2 Native African Children

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