基础医学与临床Issue(1)：90-94,5.
12例Fabry病患者临床及病理分析
Analysis of clinical and pathological features of 12 cases of Fabry disease
摘要
Abstract
Objective To investigate the clinical and pathological features of Fabry disease in Chinese patients. Methods This retrospective study included all in-patients Fabry disease patients at PUMC Hospital from 2004 to 2014.Results The 12 patients included 10 males and 2 females.The middle age at onset was 10.The most fre-quent symptoms in our group were pain(10/12), angiokeratoma(9/12), renal abnormalities (7/12), hearing loss ( 6/12 ) , hypohidrosis ( 5/12 ) , cardiac abnormalities ( 5/12 ) , cerebrovascular abnormalities ( 3/12 ) and ophthalmological abnormalities ( 3/12 ) .The severe clinical manifestations were more frequently found in males . Electron microscopy plays a very important role in pathological diagnosis of Fabry disease .7 patients were suspec-ted to have family history .5 patients were examined regularly in which 4 cases were stable , and 1 patient re-ceived hemodialysis after 3 years'follow-up.Conclusions Onset of Fabry disease is early, many organs could be involved and patients may have different clinical manifestations.There are great differences in clinical features be-tween male and female patients .关键词
Fabry病/系统损害/肾脏损害/治疗Key words
Fabry disease/multiple organs involvement/renal impairment/treatment分类
医药卫生引用本文复制引用
马杰,田建军,文煜冰,秦岩,陈丽萌,叶文玲,李雪梅..12例Fabry病患者临床及病理分析[J].基础医学与临床,2015,(1):90-94,5.基金项目
国家科技支撑计划（2011BAI10B02，2012BAJ18B03）；首都卫生发展科研专项 （）
