以肾脏病变为表现的Fabry病3例报告并文献复习  

Fabry Disease in Kidneys: Three Clinical Cases and Literature Review

作　　者：廖莹[1] 何丽娟[1] 陈洪滔[1] 何永成[1] 

机构地区：[1]广东省深圳大学第一附属医院肾内科,广东深圳518035

出　　处：《罕少疾病杂志》2015年第3期36-37,共2页Journal of Rare and Uncommon Diseases

摘　　要：Fabry病是一种遗传性多系统性疾病,以α糖苷酶活性的降低或者缺失所造成鞘糖酯在血管内皮和平滑肌细胞、心肌、肾、角膜及中枢神经系统显著堆积为特点,临床表现多种多样。本文回顾性分析我科近4年来3例具有肾损害Fabry病患者的临床表现,并对其肾活检组织进行光镜、免疫荧光及电镜检查,明确诊断,避免不恰当的治疗。Fabry disease is a rare genetic lysosomal storage disease due to a deifciency of the enzyme alpha galactosidase A. This causes significant accumulation of ceramide trihexoside in thevascular endothelium, smooth muscle cells, cardiac muscle, kidney, cornea and central nervous system. Fabry disease can cause a wide range of systemic symptoms. This is a retrospective analysis of three clinical cases from our nephrology department in the past four years. We investigated the clinical manifestations, and characteristics of the light microscopy, immunolfuorescence and electron microscopic examination of the renal biopsy. This study is attributable to the accurate diagnosis and appropriate treatment of Fabry disease.

关 键 词：FABRY病 遗传性肾病 

分 类 号：R39[医药卫生—基础医学] R9