{Reference Type}: Case Reports
{Title}: Coexisting presentation of two rare genetic variants of autosomal dominant polycystic kidney disease and Alport syndrome.
{Author}: Venda J;Henriques A;Leal R;Alves R;
{Journal}: BMJ Case Rep
{Volume}: 17
{Issue}: 5
{Year}: 2024 May 13
暂无{DOI}: 10.1136/bcr-2023-259500
{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.