Article
Early renal failure in childhood in a male with Fabry disease.
BMJ case reports - 10 May 2022
Hogh Josephine Norre, Ebrahim Hatim, Moochhala Shabbir, Ramaswami Uma
Abstract excerpt
Fabry disease is an X-linked lysosomal storage disorder caused by reduced activity or absence of the alpha-galactosidase A enzyme resulting in systemic accumulation of glycosphingolipids. End-stage renal disease (ESRD) is a late-stage manifestation of Fabry disease, typically presenting in the fifth decade of life, but is very rare in childhood. Here we present a case of an 11-year-old boy with classical Fabry...
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