[Expert consensus on the diagnosis and treatment of Alport syndrome (version 2023)].

The "Expert Recommendations on the Diagnosis and Treatment of Alport Syndrome" published in 2018 have greatly promoted the standardized management of Alport syndrome in China. In recent years, the rapid advances in researches related to this disorder have provided new insights into the clinical practice of Alport syndrome. To this end, based on the latest research progress at home and abroad, the Alport Syndrome Collaborative Group, the National Clinical Research Center of Kidney Diseases of Jinling Hospital and the Rare Diseases Branch of Beijing Medical Association have jointly organized the experts in relevant fields to revise the 2018 version of the recommendations. The updated version adds new contents related to genetic testing and variant interpretation, and refines the strategies for diagnosis, treatment and follow-up management, thereby providing guidance for the clinical diagnosis and treatment of Alport syndrome.2018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Alport综合征的临床实践提供了新的见解。为此，Alport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Alport综合征的临床诊治提供指导。.