Analysis of clinical and pathological features of 12 cases of Fabry disease
- VernacularTitle:12例Fabry病患者临床及病理分析
- Author:
Jie MA
;
Jianjun TIAN
;
Yubing WEN
;
Yan QIN
;
Limeng CHEN
;
Wenling YE
;
Xuemei LI
- Publication Type:Journal Article
- Keywords:
Fabry disease;
multiple organs involvement;
renal impairment;
treatment
- From:
Basic & Clinical Medicine
2015;(1):90-94
- CountryChina
- Language:Chinese
-
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 .
