van Rooij Iris A L M, Wijers Charlotte H W, Rieu Paul N M A, Hendriks Hester S, Brouwers Marijn M, Knoers Nine V, de Blaauw Ivo, Roeleveld Nel
Department of Epidemiology, Biostatistics and HTA, Radboud University Nijmegen Medical Center, Nijmegen, the Netherlands.
Birth Defects Res A Clin Mol Teratol. 2010 Mar;88(3):152-8. doi: 10.1002/bdra.20649.
Anorectal malformations (ARM) are major congenital malformations that usually require a multitude of surgical procedures at a very early age and have a large impact on the lives of patients and their parents. The causes of ARM are still largely unknown, but they are assumed to have a multifactorial etiology. A few studies focused on environmental risk factors, but evidence is still scarce.
In this Dutch case-control study (1996-2008), we investigated the role of maternal and paternal risk factors in the etiology of ARM. Parents of 85 ARM cases and 650 controls filled in a questionnaire. Controls were children treated with ear ventilation tubes.
A higher occurrence of fever during the first trimester of pregnancy was found for case mothers compared to control mothers (odds ratio [OR], 5.1; 95% Confidence Interval [CI], 0.9, 28.1). Maternal occupational exposure to industrial cleaning agents and solvents increased the risk of ARM three times (OR, 2.9; 95% CI, 0.9, 9.3). Overweight (Body Mass Index [BMI] > or = 25 kg/m(2)) before pregnancy also seemed to be associated with ARM (OR, 1.8; 95% CI, 1.1, 2.8), as well as maternal multivitamin use during pregnancy (OR, 1.6; 95% CI, 1.0, 2.7), paternal smoking (OR, 1.8; 95% CI, 1.1, 2.9), and paternal occupational exposure to exhaust fumes (OR, 1.9; 95% CI, 1.0, 3.6). Reported ARM in at least one first- or second-degree family member greatly increased the risk of having a child with an ARM (OR, 40.3; 95% CI, 4.8, 342.8).
This study revealed potential risk factors for ARM, including fever during pregnancy, maternal overweight, use of multivitamins, paternal smoking, and occupational exposures, but a familial component seems important as well.
肛门直肠畸形（ARM）是主要的先天性畸形，通常在很小的时候就需要进行多次外科手术，对患者及其父母的生活有很大影响。ARM的病因在很大程度上仍然未知，但推测其病因是多因素的。少数研究关注环境风险因素，但证据仍然不足。
在这项荷兰病例对照研究（1996 - 2008年）中，我们调查了父母的风险因素在ARM病因中的作用。85例ARM病例的父母和650名对照填写了一份问卷。对照是接受过耳通气管治疗的儿童。
与对照母亲相比，病例母亲在妊娠头三个月发热的发生率更高（比值比[OR]，5.1；95%置信区间[CI]，0.9，28.1）。母亲职业接触工业清洁剂和溶剂使患ARM的风险增加了两倍（OR，2.9；95% CI，0.9，9.3）。孕前超重（体重指数[BMI]≥25 kg/m²）似乎也与ARM有关（OR，1.8；95% CI，1.1，2.8），以及母亲孕期使用多种维生素（OR，1.6；95% CI，1.0，2.7）、父亲吸烟（OR，1.8；95% CI，1.1，2.9）和父亲职业接触废气（OR，1.9；95% CI，1.0，3.6）。至少有一位一级或二级家庭成员报告有ARM会大大增加生育患ARM孩子的风险（OR，40.3；95% CI，4.8，342.8）。
本研究揭示了ARM的潜在风险因素，包括孕期发热、母亲超重、使用多种维生素、父亲吸烟和职业暴露，但家族因素似乎也很重要。
