Mayberry J F, Atkinson M
Thorax. 1985 May;40(5):391-3. doi: 10.1136/thx.40.5.391.
Of 167 patients with achalasia asked to provide details of swallowing difficulties among their first degree relatives, 159 completed the survey (95% response rate). One thousand and twelve first degree relatives were identified, and 14 were reported to have dysphagia including two with reported achalasia. Review of the case notes of these 14 relatives showed, however, that in none was achalasia confirmed. Heartburn affected 54 (5%) of the relatives, an incidence similar to that in the general population. These findings suggest that adult achalasia is not inherited in an autosomal recessive manner and that environmental factors during early life do not play an important aetiological part.
在167名患有贲门失弛缓症的患者中,被要求提供其一级亲属吞咽困难详情的患者有159名完成了调查(回复率为95%)。共识别出1012名一级亲属,其中有14名报告有吞咽困难,包括2名报告患有贲门失弛缓症的亲属。然而,对这14名亲属的病历审查显示,没有一例贲门失弛缓症得到确诊。54名(5%)亲属有烧心症状,这一发病率与普通人群相似。这些发现表明,成人贲门失弛缓症并非以常染色体隐性方式遗传,并且生命早期的环境因素在病因学上并不起重要作用。