遗传性肾炎精准诊治面临的问题和思考  

The challenges and views in precise diagnosis and treatment of Alport syndrome

作　　者：黄文彦[1] 孙蕾[1] Huang Wenyan;Sun Lei(Department of Nephrology and Rheumatology,Shanghai Children′s Hospital,Shanghai Jiaotong University,Shanghai 200062,China)

机构地区：[1]上海市儿童医院,上海交通大学附属儿童医院肾脏风湿科,200062

出　　处：《中华实用儿科临床杂志》2020年第17期1299-1302,共4页Chinese Journal of Applied Clinical Pediatrics

基　　金：上海市自然科学基金面上项目(19ZR1442300)。

摘　　要：遗传性肾炎又称Alport综合征(AS),为编码Ⅳ型胶原α3/α4/α5链的COL4A3、COL4A4、COL4A5基因突变所致的临床综合征,儿童期多表现为血尿伴或不伴蛋白尿,并呈进行性加重及肾功能减退,是儿童及青少年终末期肾脏病主要原因之一;除此之外,部分患者可伴晶体病变和高频听力异常等肾脏以外临床表型。近年来,随着医学诊断技术突飞猛进的发展及分子诊断技术的不断普及,尤其是精准医学模式下AS精准诊断体系的建立,极大提高了人们对AS的认识和诊断能力。然而,随之而来的医学及社会问题(如分子诊断的精准性、治疗规范性、社会家庭、伦理及隐私保护、AS管理及遗传干预等)不断凸显并面临挑战,因此,需要医患双方、社会团体、政府部门等多方共同不断努力,让AS患者享有应有的健康保障。Hereditary nephritis is also called Alport syndrome(AS),which is caused by mutations in COL4A3,COL4A4 and COL4A5 genes which encodeα3,α4,andα5 chains of collagen typeⅣ,respectively.Patients with AS present with progressive aggravation of asymptomatic microscopic hematuria with or without proteinuria and renal dysfunction in childhood.AS is one of the main causes of end-stage renal disease in children and adolescents.Extra-renal clinical phenotypes such as ocular and hearing impairment can be also accompanied in some patients.With the rapid development of medical diagnosis technology and the increasing popularization of molecular diagnosis techno-logy in recent years,especially the establishment of accurate diagnostic strategies,people have gained a great deal of knowledge about AS,and the diagnostic capability for AS is greatly enhanced.However,a series of medical and social issues including the accuracy of molecular diagnosis,treatment normalization,social and family ethics and privacy protection,AS management,and genetic intervention,etc.have come to the fore and posed challenges.Therefore,joint efforts of patients and doctors,social groups,and governments are required for protecting the health of AS patients.

关 键 词：遗传性肾炎 ALPORT综合征 诊断 治疗 

分 类 号：R726.9[医药卫生—儿科]