title: Renal variant of Fabry disease with sporadic GLA gene mutation: role of early renal biopsy.
abstract: 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.
authors.affiliation: Department of Pathology, Faculty of Medicine and Health Sciences , United Arab Emirates University , Al Ain , United Arab Emirates.
authors.forename: Suhail
authors.initials: S
authors.lastname: Al-Salam
authors.affiliation: Department of Nephrology , Tawam Hospital in Affiliation with John Hopkins International Medicine , Al Ain , United Arab Emirates.
authors.forename: Ahmed
authors.initials: A
authors.lastname: Chaaban
authors.affiliation: Department of Pediatrics, Faculty of Medicine and Health Sciences , United Arab Emirates University , Al Ain , United Arab Emirates.
authors.forename: Fatima
authors.initials: F
authors.lastname: Al-Jasmi
authors.affiliation: Department of Pathology , University Hospital Erlangen , Erlangen , Germany.
authors.forename: Kerstin
authors.initials: K
authors.lastname: Amann
authors.affiliation: Department of Nephrology , Tawam Hospital in Affiliation with John Hopkins International Medicine , Al Ain , United Arab Emirates.
authors.forename: Samra
authors.initials: S
authors.lastname: Abouchacra
keywords: Fabry disease; renal variant; sporadic