Partington M D, McLone D G
Division of Pediatric Neurosurgery, Children's Memorial Hospital, Chicago, III., USA.
Pediatr Neurosurg. 1995;23(6):311-6. doi: 10.1159/000120977.
Ongoing research in the etiology of neural tube defects is increasingly being directed towards the molecular mechanisms at work in the formation of these complex lesions. We undertook to review the family history of patients in a large myelomeningocele/spina bifida clinic in an effort to identify genetic trends in these families, particularly as they relate to current research efforts and laboratory models. Surveys were received from 363 patients (35.5% of the clinic population) and analyzed. The myelomeningocele recurrence rate was 4.3%. Seven sets of twins were identified and all were discordant for their spinal lesions. A family history of spina was found to be evenly distributed between maternal and paternal relatives, rather than tending to follow through the maternal side. Epilepsy was more commonly found on the maternal side of the family, most likely reflecting the postulated causal relationship between maternal anticonvulsant use and the occurrence of spina bifida, although also possibly supporting the concept that a genetic predisposition for maternal epilepsy may also be associated with a higher frequency of birth defects among children of epileptics, independent of anticonvulsant use. Patients with spina bifida in the setting of Waardenburg syndrome and fragile X syndrome were also identified and will be discussed.
目前针对神经管缺陷病因的研究越来越多地聚焦于这些复杂病变形成过程中的分子机制。我们对一家大型脊髓脊膜膨出/脊柱裂诊所的患者家族史进行了回顾，以确定这些家族中的遗传趋势，特别是它们与当前研究工作和实验室模型的关系。我们收到了363名患者（占诊所患者总数的35.5%）的调查问卷并进行了分析。脊髓脊膜膨出的复发率为4.3%。我们识别出7对双胞胎，他们的脊柱病变情况均不一致。发现脊柱裂家族史在母系和父系亲属中分布均匀，而非倾向于通过母系遗传。癫痫在家族的母系中更为常见，这很可能反映了母体使用抗惊厥药物与脊柱裂发生之间的假定因果关系，不过也可能支持这样一种观点，即母体癫痫的遗传易感性也可能与癫痫患者子女中出生缺陷的较高发生率相关，且与抗惊厥药物的使用无关。我们还识别出了患有瓦登伯革氏综合征和脆性X综合征的脊柱裂患者，并将对此进行讨论。
