Risk factors for congenital malformations of the rectum (anorectal malformations)

先天性直肠畸形（肛门直肠畸形）的危险因素

• 批准号: 231696023
• 负责人: Professor Dr. Ekkehart Jenetzky
• 金额: --
• 依托单位: Klinik und Poliklinik für Kinder- und Jugendpsychiatrie und -psychotherapie
• 依托单位国家: 德国
• 项目类别: Research Grants
• 财政年份: 2012
• 资助国家: 德国
• 起止时间: 2011-12-31 至 2016-12-31
• 项目状态: 已结题
• 来源: https://gepris.dfg.de/gepris/projekt/231696023?language=en
• 关键词: Risk; factors; congenital; malformations; rectum

Congenital anorectal malformations represent an enormous challenge in the medical care of patients and their families with lifelong physical and psychosocial problems. Although surgical correction begins within the first days of life, serious functional impairments like stool incontinence and/or cosmetically impairments in the area of the external genitals and anorectum often occur. Consequently, quality of life of all family members is substantially impaired. It is estimated that approximately 25 000 people live with a congenital anorectal malforma-tion in Germany. Regardless of the birth prevalence described in the literature, the preva-lence of newborns has been increased over the last years in Germany. Current knowl-edge about the causes, however, is still sparse. Aim of a multicenter case-control study is to estimate the significance of potential risk factors quantitatively. The focus is on the fol-lowing potential risk factors: maternal obesity, maternal diabetes mellitus and types of as-sisted reproductive techniques with its related causes of subfertility.In total, 540 cases should be recruited as part of a nationwide register, established by the applicant. Furthermore, 1620 healthy controls should be recruited through a nationwide network of cooperating birth clinics. Using a standardized questionnaire and medical documents, possible risk factors and confounders should be collected and validated. The influence of potential risk factors, which is independent of confounders, is estimated using multivariable logistic regression.

先天性肛门直肠畸形是一个巨大的挑战，在医疗护理的病人和他们的家庭终身的身体和心理问题。尽管手术矫正在出生后的第一天就开始了，但经常会出现严重的功能障碍，例如大便失禁和/或外生殖器和肛门直肠区域的美容障碍。因此，所有家庭成员的生活质量受到严重损害。据估计，在德国约有25000人患有先天性肛门直肠畸形。无论文献中描述的出生患病率如何，德国的新生儿患病率在过去几年中一直在增加。然而，目前对原因的了解仍然很少。多中心病例对照研究的目的是定量评估潜在危险因素的意义。重点是以下潜在的危险因素：产妇肥胖、产妇糖尿病和辅助生殖技术类型及其相关的低生育率原因，申请人建立的全国登记册共应招募540名病例。此外，1620健康对照应通过全国范围内的合作生育诊所网络招募。应使用标准化问卷和医学文件，收集并验证可能的风险因素和混杂因素。使用多变量逻辑回归估计潜在危险因素的影响，这是独立的混杂因素。

项目成果

No major role for periconceptional folic acid use and its interaction with the MTHFR C677T polymorphism in the etiology of congenital anorectal malformations.

• DOI: 10.1002/bdra.23256
• 发表时间: 2014-06
• 期刊: Birth defects research. Part A, Clinical and molecular teratology
• 作者: C. Wijers;I. de Blaauw;N. Zwink;Markus Draaken;Loes F. M. van der Zanden;H. Brunner;A. Brooks;R. Hofstra;C. Sloots;P. Broens;M. Wijnen;M. Ludwig;E. Jenetzky;H. Reutter;C. Marcelis;N. Roeleveld;I. V. van Rooij