%0 Journal Article %A Josephine Norre Hogh %A Hatim Ebrahim %A Shabbir Moochhala %A Uma Ramaswami %T Early renal failure in childhood in a male with Fabry disease %D 2022 %R 10.1136/bcr-2021-246682 %J BMJ Case Reports %P e246682 %V 15 %N 5 %X 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. %U https://casereports.bmj.com/content/bmjcr/15/5/e246682.full.pdf