Department of Internal Medicine, Chonnam National University Hospital, Gwangju, Korea.
Department of Internal Medicine, Chonnam National University Hospital, Gwangju, Korea; Department of Cardiovascular Medicine, Chonnam National University Medical School/Hospital, Gwangju, Korea.
Transplant Proc. 2022 Jan-Feb;54(1):107-111. doi: 10.1016/j.transproceed.2021.11.019. Epub 2021 Dec 31.
Fabry disease (FD) is a rare X-linked lysosomal storage disorder that results from the deficient activity of the lysosomal enzyme α-galactosidase A (α-Gal A) enzyme. Kidney transplantation is an option for treating end-stage renal disease in patients with FD. However, only a few cases of kidney transplantation have been reported involving patients with FD and end-stage renal disease and cardiomyopathy after enzyme replacement therapy. A 53-year-old man who underwent peritoneal dialysis was referred to our department because his brother was diagnosed with FD. The diagnosis of FD was also confirmed in our patient on account of the reduced leukocyte α-Gal A enzyme activity and mutation in the α-galactosidase A gene (p.Arg301Gln). Though our patient had end-stage renal disease, he received enzyme replacement therapy with 1 mg/kg agalsidase-β every 2 weeks (Fabrazyme; Genzyme Co, Mass, USA) owing to markedly diffuse cardiac hypertrophy. Six years later, he underwent successful deceased-donor kidney transplantation. The post-transplantation course was uneventful, 4 months after transplantation. However, though he showed T-cell-mediated rejection on kidney biopsy, lamellar lysosomal inclusions were not present in vascular endothelial cells. After several months, a permanent pacemaker was inserted owing to a complete atrioventricular block; the patient died of sepsis and candidemia 1 year later. Deceased-donor kidney transplantation was successfully performed in an FD patient with sustained enzyme replacement therapy. However, owing to high cardiac morbidity and infection risks even after enzyme replacement therapy, close monitoring of these risks is essential for increasing patient survival after kidney transplantation.
法布瑞氏病（FD）是一种罕见的 X 连锁溶酶体贮积症，由溶酶体酶α-半乳糖苷酶 A（α-Gal A）缺乏活性引起。肾移植是治疗 FD 患者终末期肾病的一种选择。然而，只有少数 FD 患者在接受酶替代治疗后发生终末期肾病和心肌病的肾移植病例报告。一名 53 岁男性因接受腹膜透析而被转至我院，其哥哥被诊断为 FD。我们的患者白细胞α-Gal A 酶活性降低，α-半乳糖苷酶 A 基因（p.Arg301Gln）发生突变，从而确诊 FD。尽管我们的患者患有终末期肾病，但由于广泛的心肌肥厚，他接受了 1mg/kg 阿加糖酶β每 2 周（Fabrazyme；Genzyme Co，马萨诸塞州，美国）的酶替代治疗。6 年后，他成功接受了已故供体肾移植。移植后情况良好，移植后 4 个月。然而，尽管他的肾活检显示 T 细胞介导的排斥反应，但血管内皮细胞中没有层状溶酶体包涵物。几个月后，由于完全性房室传导阻滞，他植入了永久性起搏器；1 年后，他因败血症和念珠菌血症死亡。在持续进行酶替代治疗的情况下，FD 患者成功接受了已故供体肾移植。然而，即使在接受酶替代治疗后，由于心脏发病率高和感染风险高，密切监测这些风险对于增加肾移植后患者的生存至关重要。
