Yamada S, Ito H, Ohashi T, Yasumoto Y, Yamashita W, Harada R, Arima T, Osaki K, Nakashima A, Maeda T
Second Department of Internal Medicine, Faculty of Medicine, Kagoshima University.
Fukuoka Igaku Zasshi. 1990 Aug;81(8):266-70.
A 39 year-old man was found to have mild proteinuria by urinary examination since one year ago. He was for the first time diagnosed as having Fabry's disease by histopathological and electronmicroscopic findings of the renal biopsy specimens, which showed the presence of numerous vacuolated cells and electron dense bodies inside the cells. The level of WBC alpha-galactosidase was significantly lower than normal level. The pedigree of this patient showed a familial history of various types of renal disease. One of the patient's brothers also showed decreased level of WBC alpha-galactosidase, who has been treated by maintenance hemodialysis for 2 years. It is concluded that early diagnosis of this disease through renal biopsy and WBC alpha-galactosidase level is important to manage the future course of patients with Fabry's disease.
一名39岁男性自一年前尿检发现轻度蛋白尿。根据肾活检标本的组织病理学和电子显微镜检查结果，他首次被诊断为法布里病，标本显示存在大量空泡化细胞以及细胞内的电子致密体。白细胞α-半乳糖苷酶水平显著低于正常水平。该患者的家系显示有各类肾脏疾病的家族史。患者的一个兄弟白细胞α-半乳糖苷酶水平也降低，已接受维持性血液透析治疗2年。结论是通过肾活检和白细胞α-半乳糖苷酶水平对该病进行早期诊断，对于管理法布里病患者的未来病程很重要。
