摘要
von Hippel-Lindau(VHL)综合征是一种由VHL基因胚系杂合致病变异或启动子高甲基化引起的常染色体显性遗传病,以多发性肿瘤和囊性病变为特征,主要累及中枢神经系统、视网膜、肾脏、胰腺及肾上腺等器官系统。近年来,VHL综合征的基础与临床研究取得重要进展,特别是在基因型-临床表型相关性及靶向治疗方面,如缺氧诱导因子-2α抑制剂的临床应用。为进一步规范我国VHL综合征的诊疗,中华医学会罕见病分会、北京医学会罕见病分会、中华医学会泌尿外科学分会中国泌尿系统遗传及罕见病联盟在2018版《中国von Hippel-Lindau病诊治专家共识》的基础上,基于最新循证医学证据,对VHL综合征的流行病学、遗传学特征、临床表现、诊断标准、治疗策略及长期管理方案进行了更新,形成12条推荐意见,以期为临床实践提供科学指导。
von Hippel-Lindau(VHL)syndrome is an autosomal dominant hereditary disorder caused by germline heterozygous pathogenic variants of the VHL gene or promoter hypermethylation.It is characterized by multiple tumors and cystic lesions,primarily affecting the central nervous system,retina,kidneys,pancreas,adrenal glands,and other organs.In recent years,significant progress has been made in both basic and clinical research on VHL syndrome,particularly in genotype-phenotype correlations and targeted therapies,such as the clinical application of hypoxia-inducible factor-2α inhibitors.To further standardize the diagnosis and management of VHL syndrome in China,the Chinese Society of Rare Diseases of the Chinese Medical Association,the Beijing Society of Rare Diseases,and the Chinese Alliance for Genetic and Rare Diseases of the Urinary System of the Chinese Urological Association have updated the epidemiological,genetic,and clinical characteristics,diagnostic criteria,treatment strategies,and long-term management protocols based on the latest evidence-based medical findings and the"Chinese expert consensus for the diagnosis and treatment of von Hippel-Lindau syndrome"in the 2018 edition,and forms 12 recommended suggestions,aiming to provide scientific guidance for clinical practice.
作者
中华医学会罕见病分会
北京医学会罕见病分会
中华医学会泌尿外科学分会中国泌尿系统遗传及罕见病联盟
龚侃
张宁
杨尹默
周靖程
邱建辉
洪保安
Chinese Society of Rare Diseases,Chinese Medical Association;Beijing Society of Rare Diseases;Chinese Urological Association,Chinese Consortium for Genetic and Rare Diseases of the Urinary System;Gong Kan(不详;Department of Urology,Peking University First Hospital,Beijing 100034,China)
出处
《中华医学杂志》
北大核心
2025年第48期4441-4452,共12页
National Medical Journal of China
基金
国家自然科学基金(82141103)
中央高水平医院临床科研业务费(北京大学第一医院高质量临床研究专项2022CR75)。
