Atypical Fabry's disease. An oligosymptomatic variant.
Atypical Fabry's disease. An oligosymptomatic variant.
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非典型法布里病。
DOI：
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发表时间：
1996
影响因子：
4.6
通讯作者：
Moon
中科院分区：
文献类型：
--
作者：
Ko Yh;Kim Hj;Roh Ys;Park Ck;Kwon Ck;Moon
法布里病是一种罕见的，遗传性，X-连锁代谢性储存疾病与神经酰胺己糖苷由于α-半乳糖苷酶A缺乏。典型的法布里病患者通常表现为角膜营养不良、神经系统异常、心血管疾病、大量蛋白尿和特征性皮肤血管角化瘤的几种临床表现。然而，非典型Fabry病的少数症状表型表现为仅限于心肌细胞或肾脏的症状，可能在常规子宫内膜异位症或肾活检检查中偶然诊断。在这篇文章中，我们报告一例法布里病偶然诊断的34岁男子谁提出了间歇微量或1（+）蛋白尿。该患者的任何其他家族成员均无肾脏疾病史。肾活检以评估微量蛋白尿显示组织学和超微结构的结果符合法布里病。肾活检后，皮肤活检发现少数最初未被识别的散在的深粉红色阴囊丘疹，显示典型的血管角化瘤。尿液和血浆中α-半乳糖苷酶的生化酶测定显示半合子范围内的酶水平显著降低。
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.