Falcone Richard A, Levitt Marc A, Peña Alberto, Bates Michael
Division of Pediatric and Thoracic Surgery, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229-3039, USA.
J Pediatr Surg. 2007 Jan;42(1):124-7; discussion 127-8. doi: 10.1016/j.jpedsurg.2006.09.012.
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.
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.
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 males, 35% had perineal fistulas compared with only 10% of those without affected family members (P = .0051).
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.
各种证据表明遗传因素是导致多种类型肛门直肠畸形（ARM）的原因；因此，我们在一个大型病例系列中研究了遗传模式。
我们在ARM数据库中搜索所有有家庭成员患有先天性畸形的患者。对该组患者进行分析，以确定ARM的类型以及受影响家庭成员中的特定畸形。
1606例患者中有39例（2.4%）有家庭成员患有先天性畸形。相关的非ARM畸形包括骶部肿块以及妇科、血液学、食管、十二指肠、肾脏和脊柱畸形。其中，24例患者（1.4%）有1名或多名家庭成员患有ARM。在有家族史阳性的女性中，73%的患者患有前庭瘘或会阴瘘，而无家族史的患者中这一比例仅为36%（P = .0004）。在男性中，35%患有会阴瘘，而无受影响家庭成员的男性中这一比例仅为10%（P = .0051）。
1.4%的家族史阳性支持ARM存在强大的遗传成分。存在前庭瘘或会阴瘘时，有受影响家庭成员的风险显著增加。这些新数据有助于为患有ARM的家庭提供更明智的咨询，并支持进一步进行遗传学研究的必要性。
