Coexisting presentation of two rare genetic variants of autosomal dominant polycystic kidney disease and Alport syndrome.
BMJ Case Rep
; 17(5)2024 May 13.
Article
en En
| MEDLINE
| ID: mdl-38740443
ABSTRACT
Alport syndrome and autosomal dominant polycystic kidney disease are monogenic causes of chronic kidney disease and end-stage kidney failure. We present a case of a man in his 60s with progressive chronic kidney disease, bilateral sensorineural hearing loss and multiple renal cysts. Genetic analysis revealed a heterozygous variant in COL4A3 (linked to Alport syndrome) and in the GANAB gene (associated with a milder form of autosomal dominant polycystic kidney disease). Although each variant confers a mild risk of developing end-stage kidney disease, the patient presented a pronounced and accelerated progression of chronic kidney disease, which goes beyond what would be predicted by adding up their individual effects. This suggests a potential synergic effect of both variants, which warrants further investigation.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Riñón Poliquístico Autosómico Dominante
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Colágeno Tipo IV
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Nefritis Hereditaria
Límite:
Humans
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Male
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Middle aged
Idioma:
En
Revista:
BMJ Case Rep
Año:
2024
Tipo del documento:
Article
País de afiliación:
Portugal