Roşu Andrada-Iasmina, Andrei Diana, Ghenciu Laura Andreea, Bolintineanu Sorin Lucian
Doctoral School, University of Medicine and Pharmacy "Victor Babes", Eftimie Murgu Square No. 2, 300041 Timisoara, Romania.
Department of Anesthesia and Intensive Care, University of Medicine and Pharmacy "Victor Babes", Eftimie Murgu Square 2, 300041 Timisoara, Romania.
Biomedicines. 2025 Jun 20;13(7):1511. doi: 10.3390/biomedicines13071511.
Hydrocephalus is a complex neurological condition marked by abnormal cerebrospinal fluid (CSF) accumulation, often leading to elevated intracranial pressure and structural brain damage. Despite advances in surgical treatment, diagnostic precision and prognosis remain challenging, especially in idiopathic normal pressure hydrocephalus (iNPH). This narrative review aims to synthesize the current knowledge regarding molecular and neuroimaging biomarkers that hold diagnostic, prognostic, and therapeutic significance in hydrocephalus. A comprehensive literature search was conducted across PubMed, Scopus, Web of Science, and Google Scholar. The inclusion criteria encompassed peer-reviewed studies involving congenital or acquired hydrocephalus and reporting on mechanistic, diagnostic, or monitoring biomarkers. Both established and emerging biomarkers were included, and preclinical findings were considered when translational relevance was apparent. The review highlights a broad spectrum of molecular markers including aquaporins, vascular endothelial growth factor, neurofilaments, glial fibrillary acidic protein, matrix metalloproteinases, and neuroinflammatory markers. The genetic markers associated with ciliogenesis also show promise in subtyping disease. Parallel to molecular advances, neuroimaging techniques, ranging from classic markers like Evans' index to advanced modalities such as diffusion tensor imaging (DTI), arterial spin labeling (ASL), and glymphatic MRI, provide functional perspectives on hydrocephalus diagnosis and management, while artificial intelligence may further enhance diagnostic algorithms. Molecular and imaging markers could not only increase diagnostic confidence, but also provide information on disease causes and progression. As research progresses, merging various methodologies may result in more accurate diagnoses.
脑积水是一种复杂的神经系统疾病，其特征是脑脊液（CSF）异常积聚，常导致颅内压升高和脑结构损伤。尽管手术治疗取得了进展，但诊断的准确性和预后仍然具有挑战性，尤其是在特发性正常压力脑积水（iNPH）中。本叙述性综述旨在综合目前关于分子和神经影像学生物标志物的知识，这些标志物在脑积水的诊断、预后和治疗中具有重要意义。我们在PubMed、Scopus、Web of Science和谷歌学术上进行了全面的文献检索。纳入标准包括同行评审的研究，涉及先天性或获得性脑积水，并报告其机制、诊断或监测生物标志物。既定的和新兴的生物标志物均被纳入，当具有明显的转化相关性时，也考虑临床前研究结果。该综述强调了广泛的分子标志物，包括水通道蛋白、血管内皮生长因子、神经丝、胶质纤维酸性蛋白、基质金属蛋白酶和神经炎症标志物。与纤毛发生相关的遗传标志物在疾病亚型分类方面也显示出前景。与分子进展并行的是，神经影像技术从经典标志物如埃文斯指数到先进模式如扩散张量成像（DTI）、动脉自旋标记（ASL）和类淋巴系统MRI，为脑积水的诊断和管理提供了功能视角，而人工智能可能进一步增强诊断算法。分子和影像标志物不仅可以提高诊断的可信度，还可以提供有关疾病病因和进展的信息。随着研究的进展，融合各种方法可能会带来更准确的诊断。
