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三名兄弟姐妹患贲门失弛缓症:罕见病例。

Achalasia in three siblings: a rare occurrence.

作者信息

London F A, Raab D E, Fuller J

出版信息

Mayo Clin Proc. 1977 Feb;52(2):97-100.

PMID:609292
Abstract

Three brothers from the iron range of northern Minnesota developed typical symptoms of achalasia in adult life. The diagnosis of classic achalasia was confirmed in each brother by roentgenologic examination and by esophageal motility studies and each patient was treated successfully by forceful dilation of the lower sphincter or by esophagomyotomy. Although the three brothers were raised in the same home and all worked in the iron mines, it appears unlikely that environmental factors were responsible for the development of this disease. The etiology of achalasia in siblings remains obscure but a genetic origin (autosomal recessive) seems most likely.

摘要

来自明尼苏达州北部铁矿区的三兄弟在成年后出现了贲门失弛缓症的典型症状。通过X线检查和食管动力研究,确诊每位兄弟均患有典型的贲门失弛缓症,并且每位患者均通过强力扩张下括约肌或食管肌层切开术获得了成功治疗。尽管这三兄弟在同一家庭中长大,且都在铁矿工作,但环境因素似乎不太可能是导致这种疾病的原因。兄弟姐妹中贲门失弛缓症的病因仍不清楚,但最有可能是遗传起源(常染色体隐性遗传)。

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