Resumo

VALENTINI, Marcela; MAIANTI, Diego  e  FLORIO, Lucía. A case report. Fabry disease in an adult with chronic kidney disease and characteristic systemic symptoms. Rev.Urug.Cardiol. [online]. 2023, vol.38, n.1, e701.  Epub 01-Dez-2023. ISSN 0797-0048.  https://doi.org/10.29277/cardio.38.1.9.

It is presented a 62-year-old male patient with a family history of heart and kidney disease, and a personal history of chronic kidney disease, for which he received a kidney transplant. He was sent to the cardiology department due to atypical chest pain and episodes of symptomatic hypotension. The echocardiogram revealed: concentric left ventricular hypertrophy and pathological longitudinal myocardial deformation of the left ventricle. Cardiac magnetic resonance finds a pattern of late enhancement suggestive of Fabry disease, a diagnosis that is confirmed with enzyme dosage and genetic study. He receives specific treatment with a good initial response. This is a congenital metabolic systemic disease in which the diagnosis and specific treatment is carried out in adulthood.

Palavras-chave : fabry disease; alphagalactosidase a enzyme; lysosomal disease.

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