Dziemianko I, Jezior D, Boratyńska M, Patrzałek D, Kuźniar J, Szyber P, Klinger M
Department of Nephrology and Transplantation Medicine, Wroclaw Medical University, Wroclaw, Poland.
Transplant Proc. 2007 Nov;39(9):2925-7. doi: 10.1016/j.transproceed.2007.09.010.
Fabry disease, an X-linked recessive glycolipid storage disease, is caused by a deficiency of the lysosomal enzyme alpha-galactosidase A (alpha-Gal A), which cleaves a fatty substance called globotriaosylceramide (GL3). The abnormal storage of GL3 in blood vessel walls leads to ischemia and necrosis, particularly in blood vessels of the skin, kidneys, heart, brain, and nervous system. The aim of our study was to present the results of cadaveric kidney transplantation with enzyme alpha-Gal A therapy in a patient with Fabry disease. The patient was diagnosed with Fabry disease at the age of 33 years, based on enzymatic tests. Renal manifestations occurred a year later as proteinuria. At the age of 35 years, the glomerular filtration rate (GFR) was within the normal range. The patient received supplemental enzyme treatment with alpha-Gal (1 mg/kg every 2 weeks). At 3 months after starting supplementation, renal function worsened with serum creatinine levels at 1.7 to 1.8 mg/dL. The following months of supplementation (alpha-Gal 1 mg/kg) concurred with progressive renal dysfunction. After 27 months of supplementation at 37 years, with a creatinine value of 5.5 mg/dL, hemodialysis began and months later the patient received a cadaveric kidney graft. The patient no longer required dialysis. On postoperative day 5 the serum creatinine was 3.9 mg/dL; on day 7, 2.2 mg/dL; on day 14, 1.5 mg/dL. Enzyme supplementation began on posttransplant day 13. Renal graft function has been good during 5 months of observation with creatinine levels at 1.2 to 1.3 mg/dL. The treatment does not interfere with tacrolimus metabolism. Simultaneous chronic enzyme supplementation is the optimal treatment in the fifth stage of end-stage renal disease in Fabry disease.
法布里病是一种X连锁隐性糖脂贮积病，由溶酶体酶α-半乳糖苷酶A（α-Gal A）缺乏所致，该酶可裂解一种名为球三糖神经酰胺（GL3）的脂肪物质。GL3在血管壁中的异常蓄积会导致缺血和坏死，尤其是在皮肤、肾脏、心脏、大脑和神经系统的血管中。我们研究的目的是呈现对一名法布里病患者进行尸体肾移植并联合α-半乳糖苷酶A治疗的结果。该患者33岁时经酶学检测被诊断为法布里病。一年后出现肾脏表现，为蛋白尿。35岁时，肾小球滤过率（GFR）在正常范围内。患者接受了α-Gal补充酶治疗（每2周1mg/kg）。开始补充治疗3个月后，肾功能恶化，血清肌酐水平为1.7至1.8mg/dL。接下来几个月的补充治疗（α-Gal 1mg/kg）伴随着进行性肾功能不全。37岁时补充治疗27个月后，肌酐值为5.5mg/dL，开始进行血液透析，数月后患者接受了尸体肾移植。患者不再需要透析。术后第5天血清肌酐为3.9mg/dL；第7天为2.2mg/dL；第14天为1.5mg/dL。移植后第13天开始补充酶。在5个月的观察期内，肾移植功能良好，肌酐水平为1.2至1.3mg/dL。该治疗不干扰他克莫司的代谢。对于法布里病终末期肾病的第五阶段，同时进行慢性酶补充是最佳治疗方法。
