PT  - JOURNAL ARTICLE
AU  - Josephine Norre Hogh
AU  - Hatim Ebrahim
AU  - Shabbir Moochhala
AU  - Uma Ramaswami
TI  - Early renal failure in childhood in a male with Fabry disease
AID  - 10.1136/bcr-2021-246682
DP  - 2022 May 01
TA  - BMJ Case Reports
PG  - e246682
VI  - 15
IP  - 5
4099  - http://casereports.bmj.com/content/15/5/e246682.short
4100  - http://casereports.bmj.com/content/15/5/e246682.full
SO  - BMJ Case Reports2022 May 01; 15
AB  - 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.