Carter C O, Evans K, Hickman V
J Med Genet. 1981 Apr;18(2):87-90. doi: 10.1136/jmg.18.2.87.
The risk of recurrence of Hirschsprung's disease in sibs is reasonably well established. Survivors of early successful operations (rectosigmoidectomy) are now reaching adult life and are asking about risks to their children. The authors report a preliminary study on which to base a risk estimate. Studies on sibs show that for short segment index patients the risk to brothers is about 1 in 20 and for sisters about 1 in 100. For long segment patients the risk is about 1 in 10 irrespective of sex. In the present study it was found that one son in 52 was possibly affected, and one daughter in 47 was certainly affected, of short segment index patients. Of long segment index patients one son in three was probably affected, and the one daughter was certainly affected. One long segment patient had a child with a short segment affected and one short segment patient had a child with a long segment affected. This confirms the impression, given by single case reports of parent and child affected, that there is less likelihood of concordance in length of aganglionic segment in parent and child than in sibs. For the present it is appropriate to give an estimated risk of about 2% for offspring of short segment index patients, but a relatively higher risk for offspring of long segment index patients.
先天性巨结肠症在同胞中的复发风险已得到较好的确立。早期成功接受手术（直肠乙状结肠切除术）的幸存者现已步入成年，他们询问自己孩子的患病风险。作者报告了一项初步研究，以此为风险评估提供依据。对同胞的研究表明，对于短段型索引患者，兄弟的患病风险约为二十分之一，姐妹约为百分之一。对于长段型患者，无论性别，风险约为十分之一。在本研究中发现，短段型索引患者中，52个儿子中有1个可能患病，47个女儿中有1个肯定患病。长段型索引患者中，三个儿子中有1个可能患病，唯一的女儿肯定患病。一名长段型患者的孩子患有短段型疾病，一名短段型患者的孩子患有长段型疾病。这证实了亲子均患病的单病例报告所给出的印象，即亲子间无神经节段长度的一致性可能性低于同胞之间。目前，短段型索引患者后代的估计风险约为2%，但长段型索引患者后代的风险相对较高。
