28个家系61例家族性重症肌无力的随访和临床研究  

Clinical study and case follow-up of 61 cases of familial myasthenia gravis in 28 families

作　　者：冯慧宇[1] 刘卫彬[1] 黄鑫[1] 邱力[1] 李言[1] 王海燕[1] 罗传铭[1] 

机构地区：[1]中山大学附属第一医院神经内科,广州510080

出　　处：《中华医学杂志》2012年第37期2615-2618,共4页National Medical Journal of China

基　　金：国家自然科学基金（81071002）;中山大学临床医学研究5010计划项目（2010003）

摘　　要：目的探讨家族性重症肌无力（FMG）的临床特点与预后。方法回顾来自1998年2月至2009年3月中山大学附属第一医院神经内科的28个FMG家系的61例患者的临床资料，与257例散发型重症肌无力（MG）患者进行比较，对两组资料进行分析。结果（1）中国南方FMG患者的比例为2．03％，较国外低。（2）FMG发病年龄较早，以青少年多见，与散发型比较差异有统计学意义（70．5％比52．1％，P=0．009）。（3）FMG的临床分型以眼肌型多见，与散发型比较差异有统计学意义（83．6％比62．7％，P=0．002）。（4）FMG合并胸腺增生的比例较高，与散发型比较差异有统计学意义（98．3％比83．7％，P=0．014）。（5）FMG预后较好，达到完全稳定缓解标准的比例较高，与散发型比较差异有统计学意义（24．5％比11．7％，P=0．009）。（6）在本组资料中，“同病一致性”只出现在单纯眼肌型的家系中，家族中出现全身型患者提示家系各成员的病情差别可能比较大，而且预后也可能不一致。结论我国南方地区的FMG有与国外不同的特点，其具体的遗传方式有待研究。Objective To explore the clinical features and prognosis of familial myasthenia gravis （FMG）. Methods The clinical data were collected and analyzed for 61 FMG patients from 28 families from February 1998 to March 2009 at the department of neurology, First Affiliated Hospital, Sun Yat-sen University. And they were compared with 257 cases of sporadic myasthenia gravis （MG） by case-control method. Age at onset, gender, Osserman clinical classification, diagnosis, treatment, thymus imaging examination, prognosis and other family members were measured retrospectively. Results （1） The proportion of FMG in Southern China was 2. 03% and it was lower than the other countries. （2） Onset age was younger in FMG than in sporadic MG. Juvenile MG was more common in FMG than in sporadic MG （70.5% vs 52. 1%, P = 0.009）. （3） Ocular MG was more common in FMG than in sporadic MG （83.6% vs 62.7%, P =0. 002）. （4） There was a higher proportion in FMG with thymic hyperplasia than in sporadic MG（98.3% vs 83.7%, P =0. 014）. （5） Better prognosis was found in FMG than in sporadic MG. FMG patients had a higher proportion of completely stable remission than sporadic MG （24. 5% vs 11.7% , P =0. 009）. （6） The so-called ＂consistency of the same disease＂ could only be found in families with pure ocular diseases. If the patients with general type MG were present in the family, their pathogenetic conditions and prognosis might vary greatly. Conclusion There characteristics of FMG in south China are different from those of other countries. Their exact inheritance patterns await further explorations.

关 键 词：重症肌无力 随访研究 遗传免疫 

分 类 号：R746.1[医药卫生—神经病学与精神病学]