Li Jingwen, Zhang Xinjie, Guo Jian, Yu Chen, Yang Jun
Department of Neurosurgery, Xiang'an Hospital of Xiamen University, School of Medicine, Xiamen University, Xiamen, China.
Department of Neurosurgery, Tianjin Medical University General Hospital, Tianjin, China.
Front Genet. 2022 Jan 3;12:777926. doi: 10.3389/fgene.2021.777926. eCollection 2021.
Hydrocephalus is a neurological condition due to the aberrant circulation and/or obstruction of cerebrospinal fluid (CSF) flow with consequent enlargement of cerebral ventricular cavities. However, it is noticed that a lot of patients may still go through symptomatic progression despite standard shunting procedures, suggesting that hydrocephalus is far more complicated than a simple CSF circulative/obstructive disorder. Growing evidence indicates that genetic factors play a fundamental role in the pathogenesis of some hydrocephalus. Although the genetic research of hydrocephalus in humans is limited, many genetic loci of hydrocephalus have been defined in animal models. In general, the molecular abnormalities involved in the pathogenesis of hydrocephalus include brain development and ependymal cell dysfunction, apoptosis, inflammation, free radical generation, blood flow, and cerebral metabolism. Moreover, recent studies have indicated that the molecular abnormalities relevant to aberrant cerebral glymphatic drainage turn into an attractive subject in the CSF circulation disorder. Furthermore, the prevalent risk factors could facilitate the development of hydrocephalus. In this review, we elicited some possible fundamental molecular mechanisms and facilitating risk factors involved in the pathogenesis of hydrocephalus, and aimed to widen the diagnosis and therapeutic strategies for hydrocephalus management. Such knowledge could be used to improve patient care in different ways, such as early precise diagnosis and effective therapeutic regimens.
脑积水是一种神经系统疾病,由于脑脊液(CSF)流动异常循环和/或阻塞,导致脑室腔扩大。然而,人们注意到,尽管进行了标准的分流手术,许多患者仍可能出现症状进展,这表明脑积水远比简单的脑脊液循环/阻塞性疾病复杂。越来越多的证据表明,遗传因素在某些脑积水的发病机制中起重要作用。虽然人类脑积水的遗传研究有限,但在动物模型中已经确定了许多脑积水的基因位点。一般来说,脑积水发病机制中涉及的分子异常包括脑发育和室管膜细胞功能障碍、细胞凋亡、炎症、自由基生成、血流和脑代谢。此外,最近的研究表明,与异常脑淋巴引流相关的分子异常已成为脑脊液循环障碍中一个有吸引力的研究课题。此外,常见的危险因素可能促进脑积水的发展。在这篇综述中,我们探讨了一些可能参与脑积水发病机制的基本分子机制和促进危险因素,旨在拓宽脑积水治疗的诊断和治疗策略。这些知识可用于以不同方式改善患者护理,如早期精确诊断和有效的治疗方案。