PDF(Pubmed)
Abstract：
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.
METHODS: 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 via peroral endoscopic myotomy.
CONCLUSIONS: Peroral endoscopic myotomy is possible treatment option for a pregnant woman with achalasia caused by mitochondrial disease.
METHODS: 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 via peroral endoscopic myotomy.
CONCLUSIONS: Peroral endoscopic myotomy is possible treatment option for a pregnant woman with achalasia caused by mitochondrial disease.
摘要：
背景：贲门失弛缓症是一种原发性食管运动性疾病，其特征是正常食管蠕动受损和食管下括约肌不松弛。有时可能是一些遗传性疾病的一部分。胃肠运动障碍的原因之一，包括贲门失弛缓症,是线粒体缺陷.
方法：我们报道了一位有遗传性线粒体疾病相关症状史的孕妇，基因测试证实了这一点，经口内镜下肌切开术治疗。
结论：经口内镜下肌切开术是由线粒体疾病引起的失弛缓症孕妇的可能治疗选择。
方法：我们报道了一位有遗传性线粒体疾病相关症状史的孕妇，基因测试证实了这一点，经口内镜下肌切开术治疗。
结论：经口内镜下肌切开术是由线粒体疾病引起的失弛缓症孕妇的可能治疗选择。
