Fabry’s disease, a propos of an interesting case
Keywords:
Fabry’s disease, alpha-galactosidase, lysosomic disease storageAbstract
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.Downloads
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Published
2016-01-13
How to Cite
1.
González López I, Sierra Benítez EM, León Pérez MQ, Díaz Domínguez CE, Rodríguez Delgado M, Pérez Sánchez YI. Fabry’s disease, a propos of an interesting case. Rev Méd Electrón [Internet]. 2016 Jan. 13 [cited 2025 Jan. 9];38(1):67-75. Available from: https://revmedicaelectronica.sld.cu/index.php/rme/article/view/1252
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Section
Presentation of cases
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