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

Abstract

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.

Keywords

• col4a5 gene mutation
• children
• alport syndrome