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...

Full description

Saved in:
Bibliographic Details
Published in:Case reports in nephrology and dialysis 2021-10, Vol.11 (3), p.308-313
Main Authors: Oduware, Emmanuel, Iduoriyekemwen, Nosakhare Joyce, Ibadin, Michael, Aikhionbare, Henry
Format: Article
Language:English
Subjects:
alport syndrome
Blood pressure
Case reports
Case Series
Cataracts
children
col4a5 gene mutation
Creatinine
Edema
Electrolytes
Genes
Genomics
Hearing aids
Hearing loss
Heart rate
Hematuria
Hemoglobin
Kidneys
Males
Mutation
Nephrology
Pediatrics
Ultrasonic imaging
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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.
ISSN:2296-9705
2296-9705
DOI:10.1159/000519076