Renal variant of Fabry disease with sporadic GLA gene mutation: role of early renal biopsy

Fabry disease (FD) is a rare, X-linked inherited disease of glycosphingolipid metabolism due to deficiency of lysosomal α-galactosidase A activity. Scarce activity of lysosomal α-galactosidase A results in progressive accumulation of globotriaosylceramide (Gb3) within lysosomes, believed to trigger a flow of cellular changes that lead to the clinical manifestation of the disease. We present a 23-year-old male with renal variant of FD who was born from non-affected parents, which, to the best of our knowledge, has not been reported in the literature so far. In conclusion, FD can occur due to sporadic GLA gene mutation. Pure renal involvement might be associated with progressive disease which leads to end-stage renal disease within a short period. Physicians should have a high index of suspicion for FD especially in male cases with unexplained renal failure that are slowly progressive in nature, even in the absence of a clear hereditary component. Early renal biopsy is recommended in any progressive renal impairment.