将动物模型与人类先天性膈疝相联系。
Linking animal models to human congenital diaphragmatic hernia.
作者信息
Beurskens Niels, Klaassens Merel, Rottier Robbert, de Klein Annelies, Tibboel Dick
机构信息
Department of Pediatric Surgery, Erasmus MC, Rotterdam, The Netherlands.
出版信息
Birth Defects Res A Clin Mol Teratol. 2007 Aug;79(8):565-72. doi: 10.1002/bdra.20370.
BACKGROUND
Congenital diaphragmatic hernia (CDH) is a major life-threatening malformation, occurring in approximately 1 in 3,000 live births. Over the years, different animal models have been used to gain insight into the etiology of this complex congenital anomaly and to develop treatment strategies. However, to date the pathogenic mechanism is still not understood, and treatment remains difficult because of the associated pulmonary hypoplasia and pulmonary hypertension.
METHODS
In this review, data available from several animal models will be discussed. The retinoic acid signaling pathway (RA pathway, retinoid pathway) will be addressed as a developmental pathway that is potentially disrupted in the pathogenesis of CDH. Furthermore, genetic factors involved in diaphragm and lung development will be discussed.
CONCLUSIONS
With this review article, we aim to provide a concise overview of the current most important experimental genetic data available in the field of CDH.
背景
先天性膈疝（CDH）是一种严重威胁生命的畸形，约每3000例活产中出现1例。多年来，不同的动物模型已被用于深入了解这种复杂先天性异常的病因并制定治疗策略。然而，迄今为止，其致病机制仍未明确，且由于相关的肺发育不全和肺动脉高压，治疗仍然困难。
方法
在本综述中，将讨论来自几种动物模型的可用数据。视黄酸信号通路（RA通路，类视黄醇通路）将作为一种在CDH发病机制中可能被破坏的发育通路进行探讨。此外，还将讨论参与膈肌和肺发育的遗传因素。
结论
通过这篇综述文章，我们旨在简要概述CDH领域目前最重要的实验遗传学数据。
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