Sheth K J, Roth D A, Adams M B
Am J Kidney Dis. 1983 May;2(6):651-4. doi: 10.1016/s0272-6386(83)80047-x.
Two young males were observed with renal failure from Fabry's disease. These two patients had progressive decrease of renal function and required hemodialysis at ages 16 and 24. Diagnosis was confirmed by low plasma galactosidase levels and by skin and kidney biopsy. Each has had a successful kidney transplant with good graft function, the 16-year-old patient for five years and the 24-year-old for two years. Although the renal impairment usually does not appear until the fourth or fifth decade of life. Fabry's disease should be considered in the differential diagnosis of renal failure in young males.
观察到两名患有法布里病肾衰竭的年轻男性。这两名患者肾功能进行性下降，分别在16岁和24岁时需要进行血液透析。血浆半乳糖苷酶水平降低以及皮肤和肾脏活检确诊了该病。两人均成功进行了肾移植，移植肾功能良好，16岁的患者已维持五年，24岁的患者已维持两年。尽管肾功能损害通常直到生命的第四个或第五个十年才出现，但在年轻男性肾衰竭的鉴别诊断中应考虑法布里病。
