经口内镜下肌切开术治疗一名诊断为线粒体疾病的孕妇：病例报告
Peroral endoscopic myotomy in a pregnant woman diagnosed with mitochondrial disease: A case report.
作者信息
Smirnov Alexander A, Kiriltseva Maya M, Lyubchenko Mariya E, Nazarov Vladimir D, Botina Anna V, Burakov Aleksandr N, Lapin Sergey V
机构信息
Department of Endoscopy, Pavlov First Saint Petersburg State Medical University, Saint Petersburg 197022, Russia.
Center for Molecular Medicine, Pavlov First Saint Petersburg State Medical University, Saint Petersburg 197022, Russia.
出版信息
World J Gastrointest Endosc. 2021 May 16;13(5):155-160. doi: 10.4253/wjge.v13.i5.155.
BACKGROUND
Achalasia is a primary esophageal motility disease characterized by impairment of normal esophageal peristalsis and absence of relaxation of the lower esophageal sphincter. Sometimes is can be a part of some genetic disorders. One of the causes of gastrointestinal motility disorders, including achalasia, is mitochondrial defects.
CASE SUMMARY
We report about a pregnant woman with a history of symptoms associated with inherited mitochondrial disease, which was confirmed by genetic tests, and who was treated peroral endoscopic myotomy.
CONCLUSION
Peroral endoscopic myotomy is possible treatment option for a pregnant woman with achalasia caused by mitochondrial disease.
背景
贲门失弛缓症是一种原发性食管动力障碍性疾病，其特征为正常食管蠕动受损以及食管下括约肌松弛缺失。有时它可能是某些遗传疾病的一部分。包括贲门失弛缓症在内的胃肠动力障碍的病因之一是线粒体缺陷。
病例摘要
我们报告了一名有遗传性线粒体疾病相关症状病史的孕妇，基因检测证实了该疾病，她接受了经口内镜下肌切开术治疗。
结论
经口内镜下肌切开术是患有由线粒体疾病引起的贲门失弛缓症的孕妇的一种可行治疗选择。
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