Hiraizumi Y, Kanoh M, Shigematsu H, Yamashina M, Kondo T
Department of Pediatrics, Ogaki Municipal Hospital, Japan.
Nihon Jinzo Gakkai Shi. 1995 Nov;37(11):655-61.
A 15-year-old boy with proteinuria and hematuria is reviewed in this study. He was first found to have urinary abnormalities at the age of 13 years, and his renal function was exacerbated for a short duration. Renal biopsy was performed to make a histological diagnosis and to establish adequate therapy. Light microscopy showed marked tubulointerstitial inflammation with granulomatous changes, and electron microscopy revealed that numerous osmiophilic inclusions were present in podocytes, mesangial cells, and endothelial cells of the glomeruli and in epithelial cells of the tubules. The alpha-galactosidase activity of lymphocytes from the patient was measured, and the results of this assay indicated that the patient's lymphocytes had a low level of alpha-galactosidase activity. Therefore, the patient was diagnosed as having Fabry's disease with renal dysfunction. This study demonstrated that the onset age of renal insufficiency in Fabry's disease may be earlier than that described previously, and that when granulomatous interstitial nephritis is developed, renal function may deteriorate progressively.
本研究对一名患有蛋白尿和血尿的15岁男孩进行了评估。他13岁时首次被发现有尿液异常，肾功能在短时间内恶化。进行了肾活检以做出组织学诊断并确定适当的治疗方法。光镜检查显示明显的肾小管间质性炎症并伴有肉芽肿性改变，电镜检查显示肾小球的足细胞、系膜细胞和内皮细胞以及肾小管的上皮细胞中有大量嗜锇包涵体。检测了该患者淋巴细胞的α-半乳糖苷酶活性，该检测结果表明患者的淋巴细胞α-半乳糖苷酶活性水平较低。因此，该患者被诊断为患有伴有肾功能不全的法布里病。本研究表明，法布里病肾功能不全的发病年龄可能比先前描述的更早，并且当发生肉芽肿性间质性肾炎时，肾功能可能会逐渐恶化。
