Kyem Gloria, Okorozo Aham, Hamdan Hana, Tuffaha Ahmad M
Department of Internal Medicine, Komfo Anokye Teaching Hospital, Kumasi, Ghana.
Department of Medicine, Albert Einstein College of Medicine/Montefiore Medical Center, Bronx, New York.
Transplant Proc. 2023 Oct;55(8):1975-1977. doi: 10.1016/j.transproceed.2023.07.009. Epub 2023 Aug 8.
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.
法布里病是一种X连锁隐性遗传性溶酶体贮积症，由编码α-半乳糖苷酶A的基因突变引起。其特征是不同组织中球三糖神经酰胺蓄积，导致广泛的临床表现。法布里心肌病和法布里肾病是该疾病最重要的两种危及生命的表现，可导致更高的发病率和死亡率。心脏和肾脏移植对于发生终末器官损害的法布里病患者可发挥重要作用。我们报告一例62岁男性法布里病患者成功进行心脏移植的病例，随后在69岁时进行了肾脏移植。他移植后病程平稳，一直耐受维持性免疫抑制治疗以及重组人α-半乳糖苷酶A的酶替代疗法。
