Abstract：
Congenital hydrocephalus affects approximately one in 1000 newborn children and is fatal in approximately 50% of untreated cases. The currently known management protocols usually necessitate multiple interventions and long-term use of healthcare resources due to a relatively high incidence of complications, and many of them mostly provide a treatment of the effect rather than the cause of cerebrospinal fluid flow reduction or outflow obstruction. Future studies discussing etiology specific hydrocephalus alternative treatments are needed. We systematically reviewed the available literature on the effect of ciliary abnormality on congenital hydrocephalus pathogenesis, to open a discussion on the feasibility of factoring ciliary abnormality in future research on hydrocephalus treatment modalities. Although there are different forms of ciliopathies, we focused in this review on primary ciliary dyskinesia. There is growing evidence of association of other ciliary syndromes and hydrocephalus, such as the reduced generation of multiple motile cilia, which is distinct from primary ciliary dyskinesia. Data for this review were identified by searching PubMed using the search terms \'hydrocephalus,\' \'Kartagener syndrome,\' \'primary ciliary dyskinesia,\' and \'immotile cilia syndrome.\' Only articles published in English and reporting human patients were included. Seven studies met our inclusion criteria, reporting 12 cases of hydrocephalus associated with primary ciliary dyskinesia. The patients had variable clinical presentations, genetic backgrounds, and ciliary defects. The ependymal water propelling cilia differ in structure and function from the mucus propelling cilia, and there is a possibility of isolated non-syndromic ependymal ciliopathy causing only hydrocephalus with growing evidence in the literature for the association ependymal ciliary abnormality and hydrocephalus. Abdominal and thoracic situs in children with hydrocephalus can be evaluated, and secondary damage of ependymal cilia causing hydrocephalus in cases with generalized ciliary abnormality can be considered.
摘要：
先天性脑积水影响约1000名新生儿中的1名，在约50％的未经治疗的病例中致命。由于并发症的发生率相对较高，目前已知的管理方案通常需要多种干预措施和长期使用医疗保健资源。其中许多主要提供治疗效果，而不是脑脊液流量减少或流出道阻塞的原因。需要讨论病因特异性脑积水替代治疗的未来研究。我们系统回顾了现有文献中有关纤毛异常对先天性脑积水发病机制的影响。就未来脑积水治疗模式研究中纤毛异常因素的可行性展开讨论。虽然有不同形式的纤毛病,我们在这篇综述集中在原发性纤毛运动障碍。越来越多的证据表明其他睫状综合征与脑积水有关，例如减少多个活动纤毛的产生，与原发性纤毛运动障碍不同。这项审查的数据是通过使用搜索词“脑积水”搜索PubMed来确定的，\'\'Kartagener综合征,\'\'原发性纤毛运动障碍,\'和\'不活动纤毛综合征。\'仅包括以英语发表并报告人类患者的文章。七项研究符合我们的纳入标准，报告伴原发性纤毛运动障碍的脑积水12例。患者的临床表现各不相同，遗传背景,和纤毛缺陷。室管膜水推进纤毛与粘液推进纤毛在结构和功能上不同，而且孤立的非综合征性室管膜纤毛病可能仅引起脑积水，文献中越来越多的证据表明室管膜纤毛异常与脑积水有关。可以评估脑积水儿童的腹部和胸部位置，在全身纤毛异常的情况下，可以考虑室管膜纤毛引起脑积水的继发性损害。
