法布里病
球三糖神经酰胺
免疫抑制
医学
酶替代疗法
肾病
肾移植
心脏病
溶酶体贮存病
肾
肾脏疾病
心肌病
内科学
疾病
心力衰竭
内分泌学
糖尿病
作者
Gloria Kyem,Aham Okorozo,Hana Hamdan,Ahmad Tuffaha
标识
DOI:10.1016/j.transproceed.2023.07.009
摘要
Fabry disease is an X-linked inherited lysosomal storage disorder caused by a mutation in the gene encoding the enzyme α-galactosidase A. It is characterized by the accumulation of globotriaosylceramide in different tissues, resulting in a wide range of clinical presentations. Fabry cardiomyopathy and Fabry nephropathy are the disease's 2 most important life-threatening manifestations and can contribute to higher morbidity and mortality. Heart and kidney transplants can play a major role in patients with Fabry disease who develop end organ damage. We report a case of a successful heart transplant in a male patient with Fabry disease at the age of 62, followed by a kidney transplant later at the age of 69. He has had an uneventful post-transplant course and has been tolerating maintenance immunosuppression and enzyme replacement therapy with recombinant human α-galactosidase A.
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