The role of genetic and environmental factors in the etiology of esophageal atresia and tracheo-esophageal fistula

被引：3

作者：

Bednarczyk, Damian ^{[1
]}

Smigiel, Robert ^{[2
]}

Sasiadek, Maria Malgorzata ^{[1
]}

机构：

[1] Uniwersytet Med Piastow Slaskich Wroclawiu, Katedra & Zaklad Genet, PL-50368 Wroclaw, Poland

[2] Uniwersytet Med Piastow Slaskich Wroclawiu, Zaklad Pediat Spolecznej, Katedra Pielegniarstwa Pediat, PL-50368 Wroclaw, Poland

来源：

POSTEPY HIGIENY I MEDYCYNY DOSWIADCZALNEJ | 2014年 / 68卷

关键词：

esophageal atresia; tracheo-esophageal fistula; congenital malformations; SONIC HEDGEHOG; VACTERL ASSOCIATION; ANTERIOR FOREGUT; MUTATIONS; RISK; LUNG; SOX2; HAPLOINSUFFICIENCY; MALFORMATIONS; MORPHOGENESIS;

D O I：

10.5604/17322693.1093206

中图分类号：

R-3 [医学研究方法]; R3 [基础医学];

学科分类号：

1001 ;

摘要：

Esophageal atresia and tracheo-esophageal fistula are severe congenital malformations, whose etiology is still poorly understood. So far, numerous genetic and environmental factors that may contribute to the occurrence of these defects have been described and the literature is dominated by the view of their common involvement in the etiology and pathogenesis of congenital esophageal atresia. In this review the authors present current knowledge on the embryogenesis of the esophagus and trachea, discuss environmental risk factors, and also list and describe genetic alterations identified so far in patients with congenital esophageal atresia.

引用

页码：238 / 246

页数：9

共 74 条

[1] Differences in the levels of Sonic hedgehog protein during early foregut development caused by exposure to Adriamycin give clues to the role of the Shh gene in oesophageal atresia [J].