患有或不患有气管食管瘘的食管闭锁患者亲属中的胃肠道疾病。
Gastrointestinal diseases among relatives of patients with esophageal atresia with or without tracheoesophageal fistula.
作者信息
Zeck Florian, Reutter Heiko
机构信息
Department of Neonatology and Pediatric Intensive Care, Children's Hospital, University of Bonn, Bonn, Germany.
Institute of Human Genetics, University of Bonn, Bonn, Germany.
出版信息
Transl Pediatr. 2019 Dec;8(5):378-382. doi: 10.21037/tp.2019.04.01.
BACKGROUND
Several studies have identified genetic factors that are associated with the formation of isolated and non-isolated esophageal atresia with or without tracheoesophageal fistula (EA/TEF) in human and mice. Some of these genetic factors like FOXF1/Foxf1 are associated with Barrett syndrome, esophageal carcinoma or tumors of the gastrointestinal tract. Here, we investigated the prevalence of common gastrointestinal diseases among EA/TEF patients and their first- and second-degree relatives (parents and grandparents).
METHODS
We send out a questionnaire to 280 EA/TEF families asking for the presence of Barrett syndrome, Achalasia and carcinoma of the esophagus, the stomach, the small and large intestine among first- and second-degree relatives.
RESULTS
In 32 of 124 families we found at least one affected family member with a possible association of colon carcinoma and the occurrence of EA/TEF within the same family.
CONCLUSIONS
Further studies are needed to evaluate a possible association.
背景
多项研究已确定了与人类和小鼠中孤立性及非孤立性食管闭锁伴或不伴气管食管瘘（EA/TEF）形成相关的遗传因素。其中一些遗传因素，如FOXF1/Foxf1，与巴雷特综合征、食管癌或胃肠道肿瘤有关。在此，我们调查了EA/TEF患者及其一级和二级亲属（父母和祖父母）中常见胃肠道疾病的患病率。
方法
我们向280个EA/TEF家庭发放了一份问卷，询问一级和二级亲属中是否存在巴雷特综合征、贲门失弛缓症以及食管、胃、小肠和大肠的癌症。
结果
在124个家庭中的32个家庭中，我们发现至少有一名受影响的家庭成员，结肠癌与同一家族中EA/TEF的发生可能存在关联。
结论
需要进一步研究以评估可能的关联。
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