COL4A5 gene mutation associated Alport's syndrome in a two-year old boy: a case report

Abstract

Background: Alport's disease is an inherited disorder which may lead to End Stage Renal Disease, hearing loss and ocular abnormalities. It is as a result of mutations in COL4A3, COL4A4 and COL4A5 genes leading to collagen type 4 abnormalities in the basement membrane. Different mutations may have different outcomes and course of disease. There is very little data on the genetic mutations in Alport's disease in Sub Saharan Africa.

Case Report: A 17-month-old child was referred from Kampala with a three-month history of persistent hematuria after a febrile illness. There was a family history of maternal uncles having had renal diseases. On examination, was normotensive, had no oedema, no pallor and systemic examination was essentially normal. Laboratory examination showed microscopic hematuria, normal creatinine. Renal biopsy showed minimal change on light microscopy and no abnormality on immunofluorescence. Genetic studies showed mutation in COL4A5 genec.576dup p.(Pro193Alafs*23).

Conclusion: Alport disease is prevalent in Sub-Saharan Africa and the gene mutation in this case was in COL4A5. We need to more genetic studies on our patients with suspected Alport's disease to understand the pattern of presentation and outcomes.

Keywords: Alport's syndrome, COL4A5 mutation, hematuria, end stage renal disease, chronic kidney disease.