ABSTRACT
BACKGROUND: Fabry disease is an X-linked recessive lysosomial storage disorder that is caused by deficient activity of alpha galactosidase A. Renal involvement occurs generally in hemizygous forms. AIM: We report one case of renal involvement in Fabry disease. CASE REPORT: A 47 year-old-man had focal and segmental glomerulosclerosis with moderate renal failure. As the patient presented history of acroparesthesias, hearing loss, left ventricular hypertrophy with arrhythmia and corneal deposits, hemizygous Fabry disease was suspected. This diagnosis was confirmed with low alpha galactosidase activity. After a follow up of 5 years, the renal function remains stable but the patient died by cardiac arrhythmia. CONCLUSION: Occurrence of a glomerulonephritis associated with an hypertrophic cardiopathy without hypertension should advocate Fabry disease.
