Article
Concurrent fabry disease and immunoglobulin a nephropathy: a case report.
BMC nephrology - 1 Nov 2023
Zhou Li-Na, Dong Shao-Shao, Zhang Sheng-Ze, Huang Li-Wa, Huang Wen
Abstract excerpt
BACKGROUND: Fabry disease (FD) is an X-linked, hereditary dysfunction of glycosphingolipid storage caused by mutations in the GLA gene encoding alpha-galactosidase A enzyme. In rare cases, FD may coexist with immunoglobulin A nephropathy (IgAN). We describe a case of concurrent FD, IgAN, and dilated cardiomyopathy-causing mutations in the TTN and BAG3 genes, which has not been reported previously. CASE...
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