Manifestaciones nefrológicas de pacientes con Enfermedad de Fabry en Argentina

NEUMANN P; ROZENFELD PA

Nefrologia, diálisis y trasplante

Asociacion regional de Dialisis y trasplantes renales

Año: 2007 vol. 27 p. 99 - 102

0326-3428

Abstract Fabry disease is an X-linked disorder of glycosphingolipid catabolism that results from a deficiency of the lysosomal enzyme a-galactosidase A. The progressive and systemic accumulation of glycolipid produces acroparesthesia, angiokeratoma, hypohidrosis. With age, patients develop renal and heart failure and cerebrovascular complications, leading to early death. The main of this work is to present the nephrological alterations observed in 74 Fabry patients from Argentina. Proteinuria was the most frequent nephrological manifestation. Renal insufficiency was detected in 11 males (42.31%) and 4 females (13.33%). Six males and 1 female were on hemodialysis. Hematuria was observed in only 19% patients and arterial hypertension in 22%. The possibility of enzyme replacement therapy is fundamental in Fabry patients and renal insufficiency, in order to prevent vascular, cardiac and neurological complications.