尼曼-匹克病C型规范化诊疗中国专家共识《尼曼-匹克病C型诊疗中国专家共识》制订组

Chinese expert consensus on diagnosis and treatment of Niemann-Pick disease type C

摘要:

尼曼-匹克病C型（NPC）是一种罕见的常染色体隐性遗传溶酶体贮积病，主要累及神经/精神系统和内脏器官。该病的临床表现多样，发病年龄不定，且患者症状差异较大。由于临床表现缺乏特异性，容易被误诊或漏诊。随着病程进展，患者的神经系统症状会逐渐加重，严重者可致残甚至致死。尽管当前医学技术不断发展进步，NPC在临床诊断、治疗及全病程管理等方面较前有较大改善，但仍面临诸多挑战，且国内尚缺乏统一的诊疗标准或共识。为解决这些问题，促进国内临床医师对NPC患者进行规范化诊疗，专家组参考了最新的国内外相关指南、专家共识及临床队列研究结果，结合专家组成员的临床经验，经过反复讨论，形成了《尼曼-匹克病C型规范化诊疗中国专家共识》。该共识以临床问题作为导向，详细介绍了NPC的定义、发病机制、诊断流程、治疗手段及遗传咨询方案，提出了疾病分期标准，纳入了针对不同临床表现的治疗和管理建议，旨在帮助临床医师更有效地管理NPC患者，改善患者生活质量和预后，并为临床实践提供重要参考。

Abstract:

Niemann-Pick disease type C （NPC） is a rare autosomal recessive lysosomal storage disorder that mainly involves the nervous/mental system and visceral organs， with diverse clinical manifestations， age of onset， and symptoms. There is a lack of specific clinical manifestations， which often leads to misdiagnosis or missed diagnosis. Symptoms of the nervous system gradually aggravate with disease progression， which may cause disability or even death in severe cases. Although the advances in current medical techniques have greatly improved the clinical diagnosis， treatment， and long-term disease management of NPC， there are still challenges and a lack of unified criteria for consensus for diagnosis and treatment. To address these clinical challenges and promote the standardization of NPC diagnosis and treatment in China， a group of experts conducted a comprehensive review of the latest guidelines， consensus statements， and research findings of clinical cohort studies in China and globally and discussed and developed Chinese expert consensus on diagnosis and treatment of Niemann-Pick disease type C with reference to the clinical experience of group members. Guided by related clinical issues， the consensus introduces the definition， pathogenesis， diagnosis process， treatment measures， and genetic counseling regimens of NPC， proposes the criteria for disease staging， and incorporates the treatment and management recommendations for patients with different clinical manifestations， in order to help clinicians with the effective management of NPC patients， improve the quality of life and prognosis of patients， and provide an important reference for clinical practice. ［Journal of International Neurology and Neurosurgery, 2024, 51(5): 51-60］