九对患有食管闭锁的新双胞胎：文献综述及该疾病的双胞胎研究开展情况
Nine new twin pairs with esophageal atresia: a review of the literature and performance of a twin study of the disorder.
作者信息
Schulz Anna Carina, Bartels Enrika, Stressig Rüdiger, Ritgen Jochen, Schmiedeke Eberhard, Mattheisen Manuel, Draaken Markus, Ludwig Michael, Bagci Soyhan, Müller Andreas, Gembruch Ulrich, Geipel Annegret, Berg Christoph, Heydweiller Andreas, Bachour Haitham, Schumacher Johannes, Bartmann Peter, Nöthen Markus M, Reutter Heiko
机构信息
Department of Neonatology, Children's Hospital, University of Bonn, Bonn, Germany.
出版信息
Birth Defects Res A Clin Mol Teratol. 2012 Mar;94(3):182-6. doi: 10.1002/bdra.22879. Epub 2012 Jan 30.
BACKGROUND
Isolated esophageal atresia (EA) is a rare congenital malformation whose etiology remains largely unknown. Nine twin pairs with EA were identified from our clinical service, prompting the performance of a systematic review of the literature and the first reported twin study of isolated EA.
METHODS
A total of 330 twin pairs with EA were identified from the literature. The zygosity, concordance, and malformation (isolated vs. nonisolated) status of all 339 twin pairs were evaluated. A total of 72 twin pairs (4 of 9 / 68 of 330) fulfilled the criteria for inclusion in a classic twin study of isolated EA.
RESULTS
The pairwise concordance rates were 50% (95% confidence interval [CI], 34-66%) for monozygous (MZ) twin pairs and 26% (95% CI, 15-42%) for dizygous (DZ) twin pairs (p = 0.033). The probandwise concordance rates were 67% (95% CI, 53-78%) for MZ twin pairs and 42% (95% CI, 29-56%) for DZ twin pairs (p = 0.011). The MZ/DZ ratios were 1.9 for pairwise analysis and 1.6 for probandwise analysis. The familial risk ratios for MZ and DZ twin pairs were 1700 and 900, respectively.
CONCLUSION
The observation of higher concordance rates for MZ compared to DZ twin pairs indicates that genetic factors contribute to isolated EA.
背景
孤立性食管闭锁（EA）是一种罕见的先天性畸形，其病因在很大程度上仍然未知。我们在临床服务中识别出9对患有EA的双胞胎，促使我们对文献进行系统回顾，并首次报道了关于孤立性EA的双胞胎研究。
方法
从文献中总共识别出330对患有EA的双胞胎。评估了所有339对双胞胎的合子性、一致性和畸形（孤立性与非孤立性）状态。共有72对双胞胎（9对中的4对/330对中的68对）符合纳入孤立性EA经典双胞胎研究的标准。
结果
单卵双胎（MZ）双胞胎对的成对一致性率为50%（95%置信区间[CI]，34 - 66%），双卵双胎（DZ）双胞胎对的成对一致性率为26%（95%CI，15 - 42%）（p = 0.033）。先证者一致性率方面，MZ双胞胎对为67%（95%CI，53 - 78%），DZ双胞胎对为42%（95%CI，29 - 56%）（p = 0.011）。成对分析的MZ/DZ比率为1.9，先证者分析的MZ/DZ比率为1.6。MZ和DZ双胞胎对的家族风险比率分别为1700和900。
结论
与DZ双胞胎对相比，MZ双胞胎对具有更高一致性率的观察结果表明，遗传因素导致了孤立性EA。
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