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遗传性因素对重症肌无力的影响的流行病学证据:来自北美的回顾性队列研究。

Epidemiological evidence for a hereditary contribution to myasthenia gravis: a retrospective cohort study of patients from North America.

机构信息

Neuromuscular Diseases Research Unit, Laboratory of Neurogenetics, National Institute on Aging Intramural Research Program, Bethesda, Maryland, USA.

Department of Neurology, University of Kansas Medical Center, Kansas City, Kansas, USA.

出版信息

BMJ Open. 2020 Sep 18;10(9):e037909. doi: 10.1136/bmjopen-2020-037909.

Abstract

OBJECTIVES

To approximate the rate of familial myasthenia gravis and the coexistence of other autoimmune disorders in the patients and their families.

DESIGN

Retrospective cohort study.

SETTING

Clinics across North America.

PARTICIPANTS

The study included 1032 patients diagnosed with acetylcholine receptor antibody (AChR)-positive myasthenia gravis.

METHODS

Phenotype information of 1032 patients diagnosed with AChR-positive myasthenia gravis was obtained from clinics at 14 centres across North America between January 2010 and January 2011. A critical review of the epidemiological literature on the familial rate of myasthenia gravis was also performed.

RESULTS

Among 1032 patients, 58 (5.6%) reported a family history of myasthenia gravis. A history of autoimmune diseases was present in 26.6% of patients and in 28.4% of their family members.

DISCUSSION

The familial rate of myasthenia gravis was higher than would be expected for a sporadic disease. Furthermore, a high proportion of patients had a personal or family history of autoimmune disease. Taken together, these findings suggest a genetic contribution to the pathogenesis of myasthenia gravis.

摘要

目的

估计患者及其家属家族性重症肌无力的发生率和其他自身免疫性疾病的共存情况。

设计

回顾性队列研究。

地点

北美各地的诊所。

参与者

这项研究纳入了 1032 名被诊断为乙酰胆碱受体抗体(AChR)阳性重症肌无力的患者。

方法

2010 年 1 月至 2011 年 1 月期间,从北美 14 个中心的诊所获得了 1032 名被诊断为 AChR 阳性重症肌无力患者的表型信息。还对家族性重症肌无力的流行病学文献进行了批判性回顾。

结果

在 1032 名患者中,有 58 名(5.6%)报告有重症肌无力家族史。26.6%的患者和 28.4%的家庭成员有自身免疫性疾病史。

讨论

重症肌无力的家族发生率高于散发性疾病的预期发生率。此外,相当一部分患者有个人或家族自身免疫病史。综上所述,这些发现提示重症肌无力的发病机制存在遗传因素。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b498/7511637/d7bf1a45dced/bmjopen-2020-037909f01.jpg

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