Early renal failure in childhood in a male with Fabry disease

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 disease presenting with ESRD requiring haemodialysis and transplant. Diagnosis was confirmed by renal biopsy, GLA mutation and low alpha-galactosidase A levels. He has an unusual genotype, hemizygous for the c.1000-11T>A intronic variant and positive for the pseudodeficiency allele D313Y. Due to the possibility of very early and accelerated disease progression, Fabry disease should be considered as a possible diagnosis in unexplained renal failure in males from a younger age.

Automated summary

This case report presents a case of an 11-year-old boy with Fabry disease presenting with early-stage renal failure requiring dialysis and transplant. The diagnosis was confirmed by renal biopsy, gene mutation, and enzyme level tests. Early and accelerated disease progression should be considered in males with unexplained renal failure at a young age.