非肝硬化性门脉高压临床诊断的研究进展

Research Progress on Clinical Diagnosis of Non-Cirrhotic Portal Hypertension

摘要: 非肝硬化性门脉高压(NCPH)是一类由非肝硬化因素引起的门静脉高压综合征，其病因复杂，包括肝前性、肝内性和肝后性因素，涉及血管异常、免疫炎症及遗传调控。由于NCPH缺乏典型的肝硬化病理特征，临床上易被误诊或漏诊，因此精准诊断至关重要。本综述系统梳理了NCPH的病因、发病机制、临床表现、诊断方法及其鉴别诊断，重点分析了当前诊断面临的挑战，包括缺乏特异性生物标志物、影像学检查敏感度有限及诊断标准不统一。在此基础上，本文深入探讨了未来诊断的研究方向，包括非侵入性生物标志物的开发、多模态影像学融合、人工智能(AI)辅助诊断及标准化分型体系的建立。未来，结合生物组学分析、影像组学技术及AI算法，可望构建精准化、个体化的NCPH诊断体系，提高早期识别率，优化临床管理，并降低相关并发症风险。

Abstract: Non-cirrhotic portal hypertension (NCPH) is a syndrome of portal hypertension caused by non-cirrhotic etiologies, with complex pathogenesis involving prehepatic, intrahepatic, and posthepatic factors, such as vascular abnormalities, immune-mediated inflammation, and genetic dysregulation. Due to the absence of typical cirrhotic histopathological features, NCPH is prone to misdiagnosis or underdiagnosis in clinical practice, highlighting the critical need for accurate diagnosis. This review systematically summarizes the etiology, pathogenesis, clinical manifestations, diagnostic approaches, and differential diagnosis of NCPH, with a focus on current diagnostic challenges, including the lack of specific biomarkers, limited sensitivity of imaging modalities, and absence of unified diagnostic criteria. Furthermore, we explore future research directions, such as the development of non-invasive biomarkers, multimodal imaging integration, artificial intelligence (AI)-assisted diagnostic strategies, and establishment of standardized classification systems. By combining biomolecular profiling, radiomics, and AI algorithms, a precise and personalized diagnostic framework for NCPH may be established to improve early detection, optimize clinical management, and reduce complications.