贲门失弛缓症家族病例：病例报告及文献综述
Family case of achalasia cardia: case report and review of literature.
作者信息
Evsyutina Yulia Viktorovna, Trukhmanov Alexander Sergeevich, Ivashkin Vladimir Trophimovich
机构信息
Yulia Viktorovna Evsyutina, Alexander Sergeevich Trukhmanov, Vladimir Trophimovich Ivashkin, Department of Internal Disease Propaedeutics, Gastroenterology and Hepatology, Sechenov First Moscow State Medical University, Moscow 119991, Russian Federation.
出版信息
World J Gastroenterol. 2014 Jan 28;20(4):1114-8. doi: 10.3748/wjg.v20.i4.1114.
Achalasia cardia is an idiopathic disease that occurs as a result of inflammation and degeneration of myenteric plexi leading to the loss of postganglionic inhibitory neurons required for relaxation of the lower esophageal sphincter and peristalsis of the esophagus. The main symptoms of achalasia are dysphagia, regurgitation, chest pain and weight loss. At present, there are three main hypotheses regarding etiology of achalasia cardia which are under consideration, these are genetic, infectious and autoimmune. Genetic theory is one of the most widely discussed. Case report given below represents an inheritable case of achalasia cardia which was not diagnosed for a long time in an 81-year-old woman and her 58-year-old daughter.
贲门失弛缓症是一种特发性疾病，由肌间神经丛的炎症和变性引起，导致食管下括约肌松弛和食管蠕动所需的节后抑制神经元丧失。贲门失弛缓症的主要症状是吞咽困难、反流、胸痛和体重减轻。目前，关于贲门失弛缓症的病因有三种主要假说正在被考虑，即遗传、感染和自身免疫。遗传理论是讨论最广泛的理论之一。以下病例报告呈现了一名81岁女性及其58岁女儿长期未被诊断出的遗传性贲门失弛缓症病例。
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