中华医学杂志2023年5月30日第103卷第20期Natl Med』Chi,May30.2023.Val.103,Na.20·1507··标准与规范·Alport综合征诊治专家共识(2023版)Alport综合征协作组国家肾脏疾病临床医学研究中心北京医学会罕见病分会通信作者：丁洁，北京大学第一医院儿科，北京100034，Email:djnc_5855@126.com;刘志红，东部战区总医院国家肾脏疾病临床医学研究中心，南京210002，Email:zhliunj@vip.163.com【摘要】20I8年推出的《Alport综合征诊断和治疗专家推荐意见》极大地推动了我国Alport综合征的规范化诊治。近年该病相关研究进展迅速，为Aot综合征的临床实践提供了新的见解。为此，A山t综合征协作组、东部战区总医院国家肾脏疾病临床医学研究中心及北京医学会罕见病分会联合相关领域专家，结合国内外最新研究进展，对2018版推荐意见进行修订，新增基因检测与变异解读相关内容，细化诊断、治疗及随访管理策略，为At综合征的临床诊治提供指导。【关键词】肾炎，遗传性；Apot综合征；致病基因；基因检测；诊断；、治疗Expert consensus on the diagnosis and treatment of Alport syndrome (version 2023)Alport Syndrome Collaborative Group;National Clinical Research Center of Kidney Diseases;RareDiseases Branch of Beijing Medical AssociationCorresponding author:Ding Jie,Department of Pediatrics,Peking University First Hospital,Beijing100034,China,Email:dinc 5855@126.com;Liu Zhihong,National Clinical Research Center of KidneyDiseases,Jinling Hospital,Nanjing 210002,China,Email:zhliunj@vip.163.comAbstract)The "Expert Recommendations on the Diagnosis and Treatment of AlportSyndrome"published in 2018 have greatly promoted the standardized management of Alportsyndrome in China.In recent years,the rapid advances in researches related to this disorder haveprovided new insights into the clinical practice of Alport syndrome.To this end,based on the latestresearch progress at home and abroad,the Alport Syndrome Collaborative Group,the NationalClinical Research Center of Kidney Diseases of Jinling Hospital and the Rare Diseases Branch ofBeijing Medical Association have jointly organized the experts in relevant fields to revise the 2018version of the recommendations.The updated version adds new contents related to genetic testingand variant interpretation,and refines the strategies for diagnosis,treatment and follow-upmanagement,thereby providing guidance for the clinical diagnosis and treatment of Alportsyndrome.【Key words】Nephritis,hereditary;Alport syndrome;Causative gene;Genetictesting;Diagnosis;TreatmentAlport综合征是一种临床表现以血尿、蛋白尿、a3a4a5链的C0L4A3、C0L4A4和C0L4A5基因突进行性肾功能减退为特征，部分患者合并感音神经变导致，根据不同遗传方式分为X连锁Alport综合性耳聋(sensorineural hearing loss,.SNHL)、眼部病变征(X--linked Alport syndrome,XLAS)、常染色体隐性等肾外表现的综合征。该病是由编码Ⅳ型胶原Alport综合征(autosomal recessive Alport syndrome,D01:10.3760/cma.j.cm112137-20230203-00161收稿日期2023-02-03本文编辑郭瑞引用本文：Alport综合征协作组，国家肾脏疾病临床医学研究中心，北京医学会罕见病分会.Alport综合征诊治专家共识(2023版)[中华医学杂志，2023,103(201507-1525.D01:10.3760/cma.1cn112137-20230203-00161
