Renal involvement in paediatric Fabry disease.

Renal involvement in paediatric Fabry disease. J Biol Regul Homeost Agents. 2019 Sep-Oct;33(5 Suppl. 1):59-63 Authors: special issue: “Focus on pediatric nephrology”, Sestito S, Falvo F, Sallemi A, Petrisano M, Scuderi MG, Tarsitano F, D'Angelo G, Betta P, Roppa K, Parisi F, Pensabene L, Fede C, Chimenz R, Concolino D Abstract Anderson-Fabry Disease (AFD) is a rare, X-linked inborn error of glycosphingolipid catabolism caused by a deficient or absent activity of the lysosomal enzyme, α-galactosidase A, resulting in the progressive multisystem lysosomal accumulation of glycosphingolipids, mainly globotriaosylceramide (Gb3). Among the wide spectrum of clinical signs and symptoms and the life-threatening complications of Fabry disease, renal failure causes significant morbidity and mortality. Various evidence shows that the accumulation of Gb3 in different renal cells is present since the first years of life, many years and usually decades before manifest symptoms and signs of renal involvement. Early renal damage can be demonstrated by clinical signs as microalbuminuria and proteinuria, developing as early as in the second decade of life. A decline in GFR is uncommon at paediatric ages but may be seen as early as adolescence. Renal biopsy is rarely used in paediatric patients with Fabry disease although evidence shows that it may be considered a valid tool for the diagnosis of early and potentially reversible nephropathy, as well ...
Source: Journal of Biological Regulators and Homeostatic Agents - Category: Biomedical Science Tags: J Biol Regul Homeost Agents Source Type: research