关键词: Fabry病, 系统损害, 肾脏损害, 治疗

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 frequent symptoms in our group were pain attacks( 10/12), angiokeratoma( 9/12), renal abnormalities ( 7/12), hearing loss ( 6/12), hypohidrosis ( 5/12), cardiac abnormalities ( 5/12), cerebrovascular abnormalities ( 3/12), ophthalmological abnormalities ( 3/12)．The severity of clinical manifestations was higher in males. Electron microscopy plays a very important role in pathological diagnosis of Fabry disease．7 patients suspected to have family history. 5 patients were examined regularly, 4 cases were stable , and 1 patient started hemodialysis after 3 years’ follow-up. Conclusion Onset of Fabry disease is early, many organs could be involved and patients present with different clinical manifestations. There are great differences in clinical features between male and female patients．

Key words: Fabry disease, multiple organs involvement, renal impairment, treatment