先天性肌无力综合征(CMS)是一组影响神经肌肉接头传递的遗传性疾病。CMS女性的妊娠结局数据由于其频率不高而受到限制。在这项研究中,我们探索了在英格兰参加国家专科诊所的一大群女性中使用CMS怀孕。
所有有记录怀孕的CMS女性都被邀请填写一份调查问卷,评估怀孕期间和产后的临床状况。妊娠结局,胎儿结局,怀孕期间使用药物。
在16名患有CMS(乙酰胆碱受体缺乏症[CHRNE],慢通道综合征[CHRNA1],DOK7,RAPPYN和糖基化[DPAGT1和GFPT1]),记录了27次妊娠:26次单胎妊娠和1次双胎妊娠。63%的孕妇报告症状恶化,但除1例患者外,所有患者均恢复至基线功能.流产和剖宫产发生在31%和33%的妇女,分别。超过一半的患者在怀孕期间继续服药,其中包括吡啶斯的明(n=10),3,4-二氨基吡啶(n=9),麻黄碱(n=3),沙丁胺醇(n=3),和奎尼丁(n=1)。没有胎儿畸形记录。
我们的结果表明,妊娠期间临床恶化是常见的,但很少持续。大多数患有CMS的女性可以安全地计划怀孕,但他们的神经科和产科团队需要密切随访。虽然我们没有发现安全问题,继续用药应根据具体情况进行审查.
The congenital myasthenic syndromes (CMS) are a heterogeneous group of inherited disorders that affect neuromuscular junction transmission. Data on pregnancy outcomes in women with CMS are limited due to their infrequency. In this study we explored pregnancy with CMS in a large cohort of women attending a national specialty clinic in England.
All women with CMS who had a documented pregnancy were invited to complete a questionnaire assessing clinical status during pregnancy and postpartum, pregnancy outcomes, fetal outcomes, and medication use during pregnancy.
Among 16 women with CMS (acetylcholine receptor deficiency [CHRNE], slow channel syndrome [CHRNA1], DOK7, RAPSYN and glycosylation [DPAGT1 and GFPT1]), 27 pregnancies were recorded: 26 single pregnancies and 1 twin pregnancy. Symptom worsening was reported in 63% of pregnancies, but recovery to baseline function was seen in all but one patient. Miscarriage and cesarean section occurred in 31% and 33% of the women, respectively. Over half of the patients continued taking their medication during pregnancy, which included pyridostigmine (n = 10), 3,4-diaminopyridine (n = 9), ephedrine (n = 3), salbutamol (n = 3), and quinidine (n = 1). No fetal malformations were recorded.
Our results show that clinical worsening during pregnancy was common but rarely persistent. The majority of women with CMS can safely plan pregnancy, but close follow-up is required from their neurology and obstetric teams. Although we identified no safety concerns, continued medication use should be reviewed on a case-by-case basis.