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: | , , , |
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| Formato: | article |
| Lenguaje: | EN |
| Publicado: |
Karger Publishers
2021
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| Materias: | |
| Acceso en línea: | https://doaj.org/article/82dd3681c5114ec091d337bb0b1f3fa9 |
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| Sumario: | 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. |
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