Abstract

GONZALEZ LOPEZ, Irelys et al. Fabry’s disease, a propos of an interesting case. Rev.Med.Electrón. [online]. 2016, vol.38, n.1, pp. 67-75. ISSN 1684-1824.

Fabry’s disease is a disease caused by hereditary lysosomic storage linked to the X chromosome, and derives from mutations on the gene codifying the alpha-galactosidase enzyme. It is presented the case of a male patient aged 33 years, with antecedents of arterial hypertension, referring oppressive, burning pain in the retrosternal chest, irradiating to epigastrium, left shoulder, left hand, neck and mandible, with more than 30 minutes last. An acute myocardial infarct was suspected, but being this pathology few frequent in patients aged less than 35 years, we decided a cardiologic, nephrological, ophthalmologic, neurologic, dermatologic and clinical evaluation, finding typical symptoms of the Fabry’s disease.

Keywords : Fabry’s disease; alpha-galactosidase; lysosomic disease storage.

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