Increased heritability of certain types of anorectal malformations
Increased heritability of certain types of anorectal malformations
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DOI：
10.1016/j.jpedsurg.2006.09.012
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发表时间：
2007-01-01
影响因子：
2.4
通讯作者：
Bates, Michael
中科院分区：
文献类型：
--
作者：
Falcone, Richard A., Jr.;Levitt, Marc A.;Bates, Michael
目的：不同的证据表明肛门直肠畸形(ARMS)的不同谱系的遗传原因；因此，我们在大型病例系列中研究了遗传性模式。方法：我们搜索ARM数据库中所有有先天异常的家庭成员的患者。结果：1606例患者中有39例(2.4%)有一位先天异常的家系成员。相关的非手臂畸形包括骶骨肿块和妇科、血液学、食道、十二指肠、肾脏和脊柱异常。在这些患者中，24例(1.4%)有1个或1个以上的家庭成员有手臂。在有阳性家族史的女性患者中，73%的患者有前庭或会阴瘘，而在没有家族史的患者中，这一比例仅为36%(P=.0004)。在配偶中，35%的人有会阴瘘，而在没有受影响的家庭成员中，只有10%的人有会阴瘘(P=0.0051)。结论：1.4%的阳性家族史支持ARM的强烈遗传成分。如果出现前庭或会阴瘘，家庭成员受影响的风险会显著增加。这些新数据允许对有手臂的家庭进行更知情的咨询，并支持进一步基因研究的必要性。(C)2007 Elsevier Inc.保留所有权利。
Purpose: Various lines of evidence point to genetic causes for the diverse spectrum of anorectal malformations (ARMs); we therefore studied patterns of heritability in a large case series.Methods: We searched our ARM database for all patients having family members with congenital anomalies. This group was analyzed to determine the type of ARM and the specific anomalies in affected family members.Results: Thirty-nine of 1606 patients (2.4%) had a family member with a congenital anomaly. The associated non-ARM anomalies included sacral masses and gynecologic, hematologic, esophageal, duodenal, renal, and spinal anomalies. Of these, 24 patients (1.4%) had 1 or more family members with an ARM. Among females with a positive family history, 73% of patients had either a vestibular or perineal fistula, compared with only 36% in patients without a family history (P = .0004). Among mates, 35% had perineal fistulas compared with only 10% of those without affected family members (P = .0051).Conclusions: A positive family history in 1.4% is supportive of a strong genetic component to ARM. The risk of having an affected family member is significantly increased in the presence of a vestibular or perineal fistula. These new data allow for more informed counseling of families with an ARM and support the need for further genetic studies. (c) 2007 Elsevier Inc. All rights reserved.