Abstract
To the Editor: The review by Vivante (Aug. 15 issue)1 provides a comprehensive overview of the genetics of chronic kidney disease (CKD) and describes various monogenic disorders. However, we were surprised that Fabry’s disease, a well-known genetic cause of CKD, was not discussed. Fabry’s disease is an X-linked lysosomal storage disorder caused by mutations in GLA that lead to a deficiency of α-galactosidase A. This deficiency results in the accumulation of globotriaosylceramide in tissues, including the kidneys, which causes progressive renal dysfunction.2 Fabry’s disease manifests as a spectrum of kidney-related issues, from proteinuria to end-stage kidney disease, and is a .
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