CAJ | 학술논문

目的：研究Fabry病临床病理表现及预后。方法选取2004年至2014年北京协和医院住院的12例Fabry病患者为研究对象，回顾分析患者的临床病理资料和病情转归。结果12例患者中男性10例，女性2例，出现临床症状的中位年龄10岁。主要临床表现：肢端疼痛（10／12）、皮肤血管角质瘤（9／12）、肾脏受累（7／12）、听力下降（6／12）、无汗（5／12）、心肌病变（5／12）、脑梗死（3／12）、角膜混浊（3／12）等。所有患者血α-半乳糖苷酶A活性明显低于正常，中位数0.4（0～10.25）nmol／（h· mgPr）。4例肾脏损害患者接受了肾脏活检，均为典型的Fabry病肾损害特点，电镜检查对诊断该病有重要意义。7名患者有家族史。所有患者仅给予了对症支持治疗。5例患者接受随诊，4例患者病情基本稳定，1例患者在随诊第3年进入终末期肾病。结论 Fabry病临床表现多样，发病年龄早，多系统受累，男性患者病情更为严重。
목적：연구Fabry병림상병리표현급예후。방법선취2004년지2014년북경협화의원주원적12례Fabry병환자위연구대상，회고분석환자적림상병리자료화병정전귀。결과12례환자중남성10례，녀성2례，출현림상증상적중위년령10세。주요림상표현：지단동통（10／12）、피부혈관각질류（9／12）、신장수루（7／12）、은력하강（6／12）、무한（5／12）、심기병변（5／12）、뇌경사（3／12）、각막혼탁（3／12）등。소유환자혈α-반유당감매A활성명현저우정상，중위수0.4（0～10.25）nmol／（h· mgPr）。4례신장손해환자접수료신장활검，균위전형적Fabry병신손해특점，전경검사대진단해병유중요의의。7명환자유가족사。소유환자부급여료대증지지치료。5례환자접수수진，4례환자병정기본은정，1례환자재수진제3년진입종말기신병。결론 Fabry병림상표현다양，발병년령조，다계통수루，남성환자병정경위엄중。
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 .