Late diagnosis of Fabry disease caused by a de novo mutation in a patient with end stage renal disease.

ABSTRACT:

Background

We present the case of a white 35-year-old male with a diagnosis of Fabry disease and negative family history.

Case presentation

At the age of 31, he underwent a renal biopsy with a diagnosis of hypertension-induced nephroangiosclerosis. At the age of 35, he was referred to our hospital and started dialysis: the unusual finding of left ventricular hypertrophy with a normal ejection fraction and of myocardial fibrosis at the cardiac magnetic resonance suggested a diagnosis of Fabry disease, although there was no apparent family history-so extensive tests were subsequently undertaken. The patient had low plasma levels of α-galactosidase A and the genetic analysis showed a single nucleotide point mutation in hemizygosis at nucleotide c.901 C>T in exon 6 of the GLA ge

SUBMITTER: Pisani A 

PROVIDER: S-EPMC4658750 | biostudies-literature | 2015 Nov

REPOSITORIES: biostudies-literature