AI Article Synopsis
- Fabry disease is a rare genetic condition that affects how the body breaks down certain fats due to a problem with a specific gene.
- It can cause different health problems depending on which parts of the body are affected, especially the kidneys, heart, brain, and skin.
- A 51-year-old man found out he had this disease after heart issues led doctors to do a special heart test, even though he had already been on dialysis for his kidney problems for 9 years.
Article Abstract
Fabry disease is a rare X-linked hereditary storage disease caused by a mutation of the gene encoding alpha-galactosidase A. The clinical manifestation of the classical disease form is variable depending on the degree of individual organs involvement, including especially kidney, myocardium, central nervous system (CNS) and skin. We report a case of a 51-year-old man whose diagnostic manifestation was cardiac involvement leading to endomyocardial biopsy, which significantly contributed to the diagnosis. Although at that time he was already 9 years dependent on dialysis with terminal renal failure.
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