Clinical, Histological and Molecular Characteristics of Mexican Patients with Fabry Disease and Significant Renal Involvement
Journal
Archives of Medical Research
ISSN
0188-4409
Date Issued
2014
Author(s)
Olvera, David
Morales, Juan
Rodriguez-Espino, Benjamin A.
Lara-Mejía, Alejandra
De Los Ríos, Diana
Granados, Julio
Correa-Rotter, Ricardo
Type
text::journal::journal article
Abstract
Background and aims: Fabry's disease (FD) is an X-linked lysosomal disorder caused by a deficiency of the enzyme α-galactosidase A that produces accumulation of glycosphingolipids with clinical abnormalities of skin, eye, kidney, heart, brain, and peripheral nervous system. We undertook this study to describe the molecular characteristics of the first four Mexican patients with diagnosis of FD with significant renal involvement, correlating these molecular characteristics with clinical, pathological and biochemical findings. Methods: Genomic DNA from Mexican nonrelated patients with presumptive diagnosis of FD was sequenced by polymerase chain reaction (PCR). DNA sequences were compared against sequences in world data bank gene for alpha-galactosidase A (α-GLA, ENSG00000102393) using the BLAST database. Copyright © 2014 IMSS. Published by Elsevier Inc. All rights reserved.