Identification of a novel GLA mutation (Y88C) in a Korean family with Fabry nephropathy: a case report.

ABSTRACT:

Background

Fabry disease is a rare X-linked lysosomal storage disorder caused by α-galactosidase A deficiency. With the advancement of molecular diagnostic tools, more disease-causing mutations in α-galactosidase A (GLA) have been identified in Fabry disease. We found a novel mutation in a Korean family with predominant renal manifestations of the disease.

Case presentation

A 24-year-old man who wanted to donate a kidney to his 28-year-old brother with end-stage renal disease of unknown cause was evaluated. The 24-year-old man underwent percutaneous renal biopsy because of an accidentally found proteinuria. Electron microscopy of his renal biopsy showed numerous electron-dense multi-lamellar inclusions in the epithelial cytoplasm, typical for Fabry disease. Clinical and labo

SUBMITTER: Chong Y 

PROVIDER: S-EPMC5078899 | biostudies-literature | 2016 Oct

REPOSITORIES: biostudies-literature