Ko Y H, Kim H J, Roh Y S, Park C K, Kwon C K, Park M H
Department of Pathology, Hanyang University, College of Medicine, Seoul, Korea.
Arch Pathol Lab Med. 1996 Jan;120(1):86-9.
Fabry's disease is a rare, inherited, X-linked metabolic storage disease with ceramide hexoside due to alpha-galactosidase A deficiency. Patients with typical Fabry's disease usually present with several clinical manifestations of corneal dystrophy, neurologic abnormalities, cardiovascular disease, heavy proteinuria, and characteristic cutaneous angiokeratoma. However, atypical Fabry's disease with oligosymptomatic phenotype presents with symptoms restricted solely to cardiocytes or kidney and might be diagnosed by chance during a routine endomyocardial or renal biopsy examination. In this article, we report a case of Fabry's disease incidentally diagnosed in a 34-year-old man who presented with intermittent trace or 1(+) proteinuria only. This patient had no history of renal disease in any other family member. A renal biopsy to evaluate trace proteinuria revealed histologic and ultrastructural findings compatible with Fabry's disease. Subsequent to the renal biopsy, a skin biopsy on a few initially unrecognized, scattered, dark-pinkish scrotal papules showed typical angiokeratoma. A biochemical enzymatic assay of alpha-galactosidase in urine and plasma revealed a markedly decreased enzyme level in the hemizygous range.
法布里病是一种罕见的、遗传性的、X连锁代谢性贮积病，因α-半乳糖苷酶A缺乏导致神经酰胺己糖苷蓄积。典型法布里病患者通常有多种临床表现，包括角膜营养不良、神经异常、心血管疾病、重度蛋白尿以及特征性的皮肤血管角质瘤。然而，具有少症状表型的非典型法布里病仅表现为局限于心肌细胞或肾脏的症状，可能在常规心内膜或肾活检检查时偶然被诊断。在本文中，我们报告了一例34岁男性偶然诊断为法布里病的病例，该患者仅表现为间歇性微量或1+蛋白尿。该患者家族中其他成员无肾病病史。为评估微量蛋白尿进行的肾活检显示组织学和超微结构结果符合法布里病。肾活检后，对一些最初未识别的、散在的、暗粉红色阴囊丘疹进行皮肤活检，显示为典型的血管角质瘤。尿液和血浆中α-半乳糖苷酶的生化酶分析显示半合子范围内酶水平显著降低。
