Kancherla Vijaya, Druschel Charlotte M, Oakley Godfrey P
Center for Spina Bifida Research, Prevention and Policy, Department of Epidemiology, Emory University Rollins School of Public Health, Atlanta, Georgia.
Birth Defects Res A Clin Mol Teratol. 2014 Aug;100(8):563-75. doi: 10.1002/bdra.23259. Epub 2014 Jun 27.
The lifetime risk of death among individuals with spina bifida is 10-times higher compared with the general population. A population-based analysis on cause-specific mortality among individuals spina bifida is lacking.
Using statewide, population-based New York Congenital Malformations Registry, we examined all births between years 1983 and 2006, and identified 1988 births with spina bifida and 10,951 births with congenital hypertrophic pyloric stenosis (CHPS). We linked registry records to birth and death files from vital records, and determined age- and cause-specific mortality for isolated and multiple spina bifida, and compared the findings with the less fatal CHPS.
Mortality in spina bifida is significantly high compared with CHPS (16.9% vs. 0.96%, respectively). The probability of survival in spina bifida was lower compared with CHPS. A majority of the deaths in spina bifida occurred in infants within the first year of birth; however, an increased risk of death persisted in young adulthood for both isolated and multiple cases of spina bifida. The common causes of death in children with spina bifida were hydrocephalus, infections, cardiac anomalies, pneumonia, and pulmonary embolism; while infections, heart or kidney failure, injuries and neoplasms contributed to deaths in adults.
We conclude that mortality in spina bifida is a large concern, and individuals living with the defect require improved clinical care for lethal medical complications. Primary prevention of spina bifida through mandatory folic acid fortification remains as the best strategy to reduce both disability and mortality associated with this defect across the world.
脊柱裂患者的终生死亡风险比普通人群高10倍。目前缺乏对脊柱裂患者进行特定病因死亡率的基于人群的分析。
利用纽约州基于人群的先天性畸形登记处的数据，我们调查了1983年至2006年期间的所有出生情况，确定了1988例脊柱裂患儿和10951例先天性肥厚性幽门狭窄（CHPS）患儿。我们将登记处记录与生命记录中的出生和死亡档案相链接，确定了孤立性和多发性脊柱裂的年龄和病因特异性死亡率，并将结果与致死率较低的CHPS进行比较。
脊柱裂的死亡率显著高于CHPS（分别为16.9%和0.96%）。脊柱裂患者的存活概率低于CHPS患者。脊柱裂患者的死亡大多发生在出生后的第一年内；然而，孤立性和多发性脊柱裂患者在青年期的死亡风险仍然增加。脊柱裂患儿的常见死因是脑积水、感染、心脏异常、肺炎和肺栓塞；而感染、心脏或肾衰竭、损伤和肿瘤是成人死亡的原因。
我们得出结论，脊柱裂的死亡率是一个重大问题，患有该缺陷的个体需要改善对致命医疗并发症的临床护理。通过强制性叶酸强化进行脊柱裂的一级预防仍然是全世界减少与该缺陷相关的残疾和死亡率的最佳策略。
