男女性别不同年龄法布里病的临床特点  

Clinical characteristics of Fabry disease in different genders and ages

作　　者：杨曦[1] 谢院生[1] 米悦 李清刚[1] 符馨文 刘玉宁[2] 蔡广研[1] 陈香美[1] YANG Xi;XIE Yuansheng;MI Yue(Epartment of Nephrology, Chinese PLA General Hospital, Chinese PLA Institute of Nephrology,State Key Laboratory of Kidney Diseases, National Clinical Research Center for Kidney Diseases)

机构地区：[1]解放军总医院肾脏病科解放军肾脏病研究所肾脏疾病国家重点实验室国家慢性肾病临床医学研究中心,北京100853 [2]北京中医药大学东直门医院肾病科,北京100700

出　　处：《中国中西医结合肾病杂志》2019年第3期203-208,共6页Chinese Journal of Integrated Traditional and Western Nephrology

基　　金：国家重点研发计划资助项目(No.2016YFC0901502);国家自然科学基金资助项目(No.81774027)

摘　　要：目的:法布里病是一种罕见的X连锁遗传溶酶体蓄积病,其临床表现涉及多个系统,可能有性别和年龄差异。目前针对法布里病的研究多局限于欧美人群,尚无大样本中国人群的临床症状研究。本研究旨在探讨中国人群男女性别不同年龄法布里病的临床表现及严重程度。方法:收集患者的一般信息和各系统的临床资料,按性别分成男性组和女性组,按不同年龄段分为未成年组(<18岁)、青年组(≥18岁且≤45岁)和中年组(> 45岁),对比分析男女性别、不同年龄法布里病的临床特点。结果:共收集、分析了108例患者资料,男82例,女26例;年龄最小11岁,最大68岁,平均年龄(31. 85±11. 43)岁。法布里病在男性的诊断年龄为(25. 74±9. 34)岁,女性为(37. 48±12. 09)岁。疼痛、注意力下降,无汗/少汗、血管角质瘤,听力下降,腹泻、胃肠功能紊乱,高血压,蛋白尿、慢性肾衰竭,男性的发生率均明显高于女性。MSSI严重度评分,男性重于女性[(20. 00(13. 38,28. 63) vs 10. 50(4. 56,15. 63)]。按不同年龄分组时,无汗/少汗在未成年组和青年组的发生率高;耳鸣和蛋白尿、慢性肾衰竭青年组更明显;心肌肥厚、传导阻滞的发生率随增龄而增加,差异均有统计学意义。结论:法布里病男性的诊断年龄明显小于女性,很多临床表现都是男性常见于女性,且严重程度更高。不同年龄段法布里病症状的发生率不一样,无汗/少汗青少年多见,耳部和肾脏表现青年多见,心脏损害常见于中年。Objective: Fabry disease is a X-linked genetic lysosomal storage disease,which its manifestations are involved into many systems. It is related to the genders and ages. Nowadays,a lot of surveys are aimed to European and American populations,there is no large-scale study aimed for Chinese populations. The purpose of the article is to discuss the manifestations in different genders and ages. Methods: Collecting the clinical data of the patients,the patients are divided into several groups,women and men;juveniles,young people and mid-aged people. The manifestations were statistically analyzed. Results: The study has collected108 patients,including 82 males and 26 females,the youngest is 11 years old and the oldest is 68. The average age of the patients is( 31. 85 ± 11. 43). The age of diagnosis of Fabry disease is( 37. 48 ± 12. 09) in females,( 25. 74 ± 9. 34) in males. The incidence of neuropsychiatric pain,decreased attention,skin and ear manifestations,diarrhea,gastrointestinal dysfunction,hypertension,proteinuria and chronic renal insufficiency were significantly higher in men than in women,with statistically significant difference. The MSSI severity score is higher for men than for women [( 20. 00( 13. 38,28. 63) vs 10. 50( 4. 56,15. 63)],which the difference was statistically significant. When grouped according to different ages,the incidence of no sweat/lean sweat in the juvenile group was higher,the tinnitus and proteinuria,chronic renal failure in the young people were more obvious;the incidence of cardiac hypertrophy and conduction block increase in mid-aged people,there are statistical difference. Conclusion: The age of diagnosis and course of the disease is younger in males than females. Many clinical manifestations of Fabry disease are more obvious and more serious in males. The incidence of Fabry disease symptoms is different in different age groups. Non-sweat/sweat are more common in juveniles,symptoms of ear and kidney are more common in young people and heart damage is common in middle age.

关 键 词：法布里病 临床特点 性别 年龄 

分 类 号：R596.1[医药卫生—内科学]