What is it about?
A rare hereditary kidney disease via maternal ancestry in two African children who reside with their mother in Benin City, Edo State, Nigeria. The condition which is the second most common type of inherited kidney diseases affects the hearing, vision and kidney function of the affected individuals, often males and usually progresses to end stage kidney disease if not diagnosed and treated early.
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Why is it important?
The index publication is the first case report involving a child in Nigeria, the first known genetic diagnosis of Alport syndrome in West Africa, and the first reported case in recent times in Africa.
Perspectives
The case diagnosed in a resource challenged setting at the University of Benin Teaching Hospital, reflects that Alport syndrome, though a rare hereditary kidney disease occurs in Africa and can be better diagnosed and support provided for patients, carers and clinicians with improved deployment of critical resources.
Emmanuel Oduware
Medway UTC
Read the Original
This page is a summary of: A Case Report of <b><i>COL4A5</i></b> Gene Mutation Alport Syndrome in 2 Native African Children, Case Reports in Nephrology and Dialysis, October 2021, Karger Publishers,
DOI: 10.1159/000519076.
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