一例法布里病病例。

A case of Fabry's disease.

作者信息

Miura M, Tomino Y, Inoue W, Endoh M, Suga T, Kaneshige H, Nomoto Y, Sakai H, Matsuo I, Nagura H, Ikeda N

出版信息

Tokai J Exp Clin Med. 1983 Jan;8(1):23-9.

Abstract

A case of Fabry's disease in a 22-year-old male patient who had mild proteinuria and dark-red eruptions is reported. He had been treated as a case of a so-called "chronic glomerulonephritis" for one year. However, histopathological findings of the renal biopsy specimens showed the presence of numerous vacuolated cells in the glomeruli. These vacuolated cells contained numerous electron dense bodies observed by electron microscopy. Skin lesions of this patient were consistent with those of angiokeratoma corporis. The levels of serum alpha-galactosidase were significantly lower than those of healthy controls. The mother of this patient also showed decreased levels of serum alpha-galactosidase. The pedigree of this patient showed a familial history of various types of renal diseases. It was postulated that Fabry's disease occurring in older patients has a worse clinical course. it is concluded that early detection of this disease through biopsy and the assay of serum alpha-galactosidase levels is important in managing the future course of patients with Fabry's disease.

摘要

报告了一例22岁男性患者的法布里病，该患者有轻度蛋白尿和暗红色皮疹。他被当作所谓的“慢性肾小球肾炎”治疗了一年。然而，肾活检标本的组织病理学检查结果显示肾小球中有大量空泡化细胞。通过电子显微镜观察，这些空泡化细胞含有大量电子致密体。该患者的皮肤病变与全身性血管角质瘤一致。血清α-半乳糖苷酶水平显著低于健康对照者。该患者的母亲血清α-半乳糖苷酶水平也降低。该患者的家系显示有各种肾病的家族史。据推测，老年患者发生的法布里病临床病程更差。得出结论，通过活检和检测血清α-半乳糖苷酶水平早期发现该病对于管理法布里病患者的未来病程很重要。