一个五代大家庭中的家族性食管裂孔疝，证实为真正的常染色体显性遗传。
Familial hiatal hernia in a large five generation family confirming true autosomal dominant inheritance.
作者信息
Carré I J, Johnston B T, Thomas P S, Morrison P J
机构信息
Department of Child Health, The Queen's University of Belfast, Northern Ireland, UK.
出版信息
Gut. 1999 Nov;45(5):649-52. doi: 10.1136/gut.45.5.649.
Abstract
BACKGROUND
Familial hiatal hernia has only rarely been documented.
AIMS
To describe the pattern of inheritance of familial hiatal hernia within an affected family.
SUBJECTS
Thirty eight members of a family pedigree across five generations.
METHODS
All family members were interviewed and investigated by barium meal for evidence of a hiatal hernia.
RESULTS
Twenty three of 38 family members had radiological evidence of a hiatal hernia. No individual with a hiatal hernia was born to unaffected parents. In one case direct male to male transmission was shown.
CONCLUSIONS
Familial inheritance of hiatal hernia does occur. Evidence of direct male to male transmission points to an autosomal dominant mode of inheritance.
摘要
背景
家族性食管裂孔疝仅有极少的文献记载。
目的
描述一个受累家族中家族性食管裂孔疝的遗传模式。
研究对象
一个五代家族谱系中的38名成员。
方法
对所有家族成员进行访谈，并通过钡餐检查以寻找食管裂孔疝的证据。
结果
38名家族成员中有23人有食管裂孔疝的影像学证据。没有食管裂孔疝患者是由未患病的父母所生。在一个病例中显示了男性到男性的直接遗传。
结论
食管裂孔疝确实存在家族遗传。男性到男性直接遗传的证据表明其遗传模式为常染色体显性遗传。
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