A Case Report of <b><i>COL4A5</i></b> 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 &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.

A case of Alport syndrome

“…It usually manifests as progressive form of glomerular disease that is often associated with sensorineural hearing loss and ocular abnormalities. 1 The defects are caused by mutations in the genes that code for type IV collagen's alpha chains, which are the most important structural elements of basement membranes, including those in the kidney, cochlea, and eye. 2 Patients develop hematuria, thinning and splitting of the glomerular basement membrane, mild proteinuria, which appears late in course, followed by chronic glomerulosclerosis leading to renal failure in association with sensorineural deafness and ocular abnormalities.…”