Deng Xuehai, Chen Yiqian, Duan Qiyue, Ding Jianlin, Wang Zhong, Wang Junchi, Chen Xinlong, Zhou Liangxue, Zhao Long
Department of Neurosurgery, Affiliated Hospital of North Sichuan Medical College, Nanchong, China.
School of Clinical Medicine, North Sichuan Medical College, Nanchong, China.
Front Mol Neurosci. 2025 Jan 7;17:1512455. doi: 10.3389/fnmol.2024.1512455. eCollection 2024.
Hydrocephalus is a neurological condition caused by aberrant circulation and/or obstructed cerebrospinal fluid (CSF) flow after cerebral ventricle abnormal dilatation. In the past 50 years, the diagnosis and treatment of hydrocephalus have remained understudied and underreported, and little progress has been made with respect to prevention or treatment. Further research on the pathogenesis of hydrocephalus is essential for developing new diagnostic, preventive, and therapeutic strategies. Various genetic and molecular abnormalities contribute to the mechanisms of hydrocephalus, including gene deletions or mutations, the activation of cellular inflammatory signaling pathways, alterations in water channel proteins, and disruptions in iron metabolism. Several studies have demonstrated that modulating the expression of key proteins, including TGF-β, VEGF, Wnt, AQP, NF-κB, and NKCC, can significantly influence the onset and progression of hydrocephalus. This review summarizes and discusses key mechanisms that may be involved in the pathogenesis of hydrocephalus at both the genetic and molecular levels. While obstructive hydrocephalus can often be addressed by removing the obstruction, most cases require treatment strategies that involve merely slowing disease progression by correcting CSF circulation patterns. There have been few new research breakthroughs in the prevention and treatment of hydrocephalus.
脑积水是一种神经疾病，由脑室异常扩张后脑脊液（CSF）循环异常和/或流动受阻引起。在过去50年里，脑积水的诊断和治疗一直未得到充分研究和报道，在预防或治疗方面进展甚微。进一步研究脑积水的发病机制对于开发新的诊断、预防和治疗策略至关重要。各种遗传和分子异常参与了脑积水的发病机制，包括基因缺失或突变、细胞炎症信号通路的激活、水通道蛋白的改变以及铁代谢的紊乱。多项研究表明，调节关键蛋白的表达，包括转化生长因子-β（TGF-β）、血管内皮生长因子（VEGF）、Wnt、水通道蛋白（AQP）、核因子-κB（NF-κB）和钠钾氯协同转运蛋白1（NKCC），可显著影响脑积水的发生和进展。本文综述并讨论了在遗传和分子水平上可能参与脑积水发病机制的关键机制。虽然梗阻性脑积水通常可通过解除梗阻来解决，但大多数病例需要的治疗策略仅仅是通过纠正脑脊液循环模式来减缓疾病进展。脑积水的预防和治疗方面几乎没有新的研究突破。
