CAJ | 학술논문

目的总结我国法布里病患者多器官病变的发生率和临床表现特点.方法收集北京大学第一医院神经内科2001-2014年依据病理改变、α-半乳糖苷酶活性A测定和GLA基因突变检查确诊的31个法布里病家系发病者的临床资料,统计其神经痛、肾脏病变、心脏病变、高血压病和脑卒中的发生率和起病时间,使用SPSS 17.0统计软件对男女患者不同器官损害的发生率进行x2检验,比较男女患者上述病变发生率的差异.结果 31个法布里病家系中共151例发病(男∶女=82∶ 69),其中出现神经痛91例(60.26％)、肾脏病变62例(41.06％)、心脏病变33例(21.85％)、高血压病33例(21.85％)、脑卒中21例(13.91％).神经痛的发病高峰期在10 ～ 20岁、肾病为30～40岁,心脏病和脑卒中均为40 ～ 50岁,高血压无发病高峰年龄.女性患者在肾脏病变的发生率低于男性,差异具有统计学意义(P＜0.05),其他多器官损害的发生率与男性差异均无统计学意义.结论我国法布里病的多器官损害发生率和起病时间具有一定规律性,仅在肾脏病变发生率方面具有性别差异.
목적 총결아국법포리병환자다기관병변적발생솔화림상표현특점.방법 수집북경대학제일의원신경내과2001-2014년의거병리개변、α-반유당감매활성A측정화GLA기인돌변검사학진적31개법포리병가계발병자적림상자료,통계기신경통、신장병변、심장병변、고혈압병화뇌졸중적발생솔화기병시간,사용SPSS 17.0통계연건대남녀환자불동기관손해적발생솔진행x2검험,비교남녀환자상술병변발생솔적차이.결과 31개법포리병가계중공151례발병(남∶녀=82∶ 69),기중출현신경통91례(60.26％)、신장병변62례(41.06％)、심장병변33례(21.85％)、고혈압병33례(21.85％)、뇌졸중21례(13.91％).신경통적발병고봉기재10 ～ 20세、신병위30～40세,심장병화뇌졸중균위40 ～ 50세,고혈압무발병고봉년령.녀성환자재신장병변적발생솔저우남성,차이구유통계학의의(P＜0.05),기타다기관손해적발생솔여남성차이균무통계학의의.결론 아국법포리병적다기관손해발생솔화기병시간구유일정규률성,부재신장병변발생솔방면구유성별차이.
Objective To investigate incidence and clinical features of multiple organ involvement in Chinese patients with Fabry disease.Methods We collected 151 patients of 31 families with Fabry disease,all of whom were confirmed by classic pathology,decreased α-galactosidase A activity or GLA mutation from the year of 2011 to 2014 in Department of Neurology,Peking University First Hospital.The clinical data included incidence and onset of neuralgia,renal dysfunction,heart disease,hypertension and cerebral stroke.We calculate the incidence of these symptoms and analyze their gender difference using chisquare with SPSS 17.0 software.Results Among 31 families with Fabry disease,151 patients (82 males and 69 females) were affected,including 91 patients (60.26％) with neuralgia,62 patients (41.06％) with renal disease,33 patients (21.85％) with heart disease,33 patients (21.85％) with hypertension,and 21 patients (13.91％) with cerebral stroke.The peak incidence of neuralgia was from 10 to 20 years old,followed by renal disease from 30 to 40 years old,heart disease and stroke from 40 to 50 years old.There is no peak period for hypertension.Except for males with higher incidence of renal dysfunction than females (P ＜ 0.05),there were no gender difference in the incidence of other organ involvement.Conclusion The incidence and onset of multiple organ dysfunction in Chinese patients with Fabry disease displayed special regularity.Gender difference appeared only in renal disease.