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腹裂的非遗传风险因素。

Non-genetic risk factors for gastroschisis.

作者信息

Rasmussen Sonja A, Frías Jaime L

机构信息

National Center on Birth Defects and Developmental Disabilities at Centers for Disease Control and Prevention in Atlanta, USA.

出版信息

Am J Med Genet C Semin Med Genet. 2008 Aug 15;148C(3):199-212. doi: 10.1002/ajmg.c.30175.

Abstract

Gastroschisis is an abdominal wall defect typically located to the right of the umbilical cord in which intestines and occasionally other abdominal contents herniate through the abdominal wall opening. The etiology of this defect is unknown. The increased recurrence risks observed in families with a child with gastroschisis suggest that genetic factors play a role in its causation. However, non-genetic factors are also important, as evidenced by the increased occurrence of gastroschisis among younger mothers, the increasing prevalence of gastroschisis in recent years observed by several birth defects surveillance systems, and the frequent occurrence of gastroschisis in a cluster pattern. Despite recognition of the importance of non-genetic factors in gastroschisis causation, no factors, other than young maternal age, have been definitively identified, limiting the development of prevention strategies. This article summarizes the currently available literature on non-genetic risk factors for gastroschisis, including investigations of sociodemographic factors, maternal therapeutic medication and non-therapeutic drug exposures, chemical exposures, and other factors. The article also discusses some of the challenges faced by investigators working to better understand gastroschisis etiology.

摘要

腹裂是一种腹壁缺损,通常位于脐带右侧,肠管及偶尔其他腹腔内容物通过腹壁开口疝出。这种缺损的病因尚不清楚。在有腹裂患儿的家庭中观察到复发风险增加,这表明遗传因素在其病因中起作用。然而,非遗传因素也很重要,这一点在年轻母亲中腹裂发生率增加、多个出生缺陷监测系统观察到近年来腹裂患病率上升以及腹裂常呈聚集模式发生中得到了证明。尽管认识到非遗传因素在腹裂病因中的重要性,但除了年轻产妇年龄外,尚未明确确定其他因素,这限制了预防策略的制定。本文总结了目前关于腹裂非遗传危险因素的现有文献,包括社会人口学因素、母亲治疗用药和非治疗性药物暴露、化学物质暴露及其他因素的研究。本文还讨论了致力于更好地理解腹裂病因的研究人员所面临的一些挑战。

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