Spina bifida.
Spina bifida.
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DOI：
10.1038/nrdp.2015.7
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发表时间：
2015-04-30
期刊：
影响因子：
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通讯作者：
Shaw GM
中科院分区：
文献类型：
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作者：
Copp AJ;Adzick NS;Chitty LS;Fletcher JM;Holmbeck GN;Shaw GM
脊柱裂是一种出生缺陷，脊柱是开放性的（脊柱裂），通常伴有脊髓受累。临床上最重要的是脊髓脊膜膨出（MMC;开放性脊柱裂），其中脊髓神经管在胚胎发育期间未能闭合。暴露的神经组织在子宫内退化，导致神经功能缺损，其随病变水平而变化。MMC在全世界每1000名新生儿中约有1例，是最常见的先天性畸形之一，但其原因在很大程度上尚不清楚。MMC的遗传成分估计为60-70%，但尽管来自小鼠模型的许多信息，但很少有基因被鉴定。非遗传风险因素包括叶酸摄入量减少、母体抗惊厥治疗、糖尿病和肥胖。通过围孕期叶酸进行的初级预防已在临床试验中得到证实，导致许多国家开展了食品强化方案。产前诊断是通过超声波进行的，可以终止妊娠。存活至出生的个体通过手术闭合病变，随后处理相关缺陷，包括基亚里II畸形、脑积水以及泌尿和矫形后遗症。与出生后手术相比，胎儿手术修复MMC与改善早期神经功能结局相关。MMC影响儿童、青少年和成年期的生活质量，对个人、家庭和整个社会构成挑战。
Spina bifida is a birth defect in which the vertebral column is open (bifid), often with spinal cord involvement. Clinically most significant is myelomeningocele (MMC; open spina bifida) in which the spinal neural tube fails to close during embryonic development. The exposed neural tissue degenerates in utero, resulting in neurological deficit that varies with level of the lesion. Occurring in around 1 per 1000 births worldwide, MMC is one of the commonest congenital malformations, yet its causation is largely unknown. The genetic component of MMC is estimated at 60-70% but few genes have yet been identified, despite much information from mouse models. Non-genetic risk factors include reduced folate intake, maternal anticonvulsant therapy, diabetes mellitus and obesity. Primary prevention by peri-conceptional folic acid has been demonstrated in clinical trials, leading to food fortification programmes in many countries. Prenatal diagnosis is by ultrasound enabling termination of pregnancy. Individuals who survive to birth have their lesions closed surgically, with subsequent management of associated defects, including the Chiari II malformation, hydrocephalus, and urological and orthopaedic sequelae. Fetal surgical repair of MMC has been associated with improved early neurological outcome compared with postnatal operation. MMC affects quality of life during childhood, adolescence, and into adulthood, posing a challenge for individuals, families and society as a whole.