@article {Hoghe246682, author = {Josephine Norre Hogh and Hatim Ebrahim and Shabbir Moochhala and Uma Ramaswami}, title = {Early renal failure in childhood in a male with Fabry disease}, volume = {15}, number = {5}, elocation-id = {e246682}, year = {2022}, doi = {10.1136/bcr-2021-246682}, publisher = {BMJ Specialist Journals}, abstract = {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{\textendash}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.}, URL = {https://casereports.bmj.com/content/15/5/e246682}, eprint = {https://casereports.bmj.com/content/15/5/e246682.full.pdf}, journal = {BMJ Case Reports CP} }