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Case Reports
. 2018 Sep 8:17:16-17.
doi: 10.1016/j.ymgmr.2018.07.001. eCollection 2018 Dec.

Fabry disease. A potential pitfall A family with a novel intronic mutation

Gustavo Cabrera  1 , Fernando Perretta  2
Affiliations
Case Reports

Fabry disease. A potential pitfall A family with a novel intronic mutation

Gustavo Cabrera et al. Mol Genet Metab Rep. .

Abstract

Fabry disease is a genetic disorder characterized by the accumulation of globotriaosylceramide in cell lysosomes resulting from an X-linked deficiency of α-galactosidase A activity. It presents with multiorgan manifestations, including progressive renal disease, cardiomyopathy and premature demise. Recently, its prevalence has been reported to be higher in hemodialysis (HD) patients than in the general population. We report two cases of homozygous patients with an intronic alpha-galactosidase gene mutation and a classic phenotype of the disease. One of the patients had a kidney transplant and the donor was his brother, before Fabry disease were diagnose.

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