33例不同程度肾损伤Alport综合征患儿远期听力监测分析  

Long-term auditory monitoring in children with Alport syndrome based on different degrees of renal injury

作　　者：郭丽宁 刘薇[1,2] 陈敏 徐佳童[3] 马宁 张晓 段清川[1,2] 刘珊珊 王晓旭 甄俊淞 倪鑫 张杰 GUO Lining;LIU Wei;CHEN Min;XU Jiatong;MA Ning;ZHANG Xiao;DUAN Qingchuan;LIU Shanshan;WANG Xiaoxu;ZHEN Junsong;NI Xin;ZHANG Jie(Department of Otorhinolaryngology Head and Neck Surgery,Beijing Children′s Hospital,Capital Medical University,National Center for Children′s Health,Beijing 100045,China;Beijing Key Laboratory for Pediatric Diseases of Otolaryngology Head and Neck Surgery;Department of Pathology,Beijing Children′s Hospital,Capital Medical University)

机构地区：[1]国家儿童医学中心首都医科大学附属北京儿童医院耳鼻咽喉头颈外科,北京100045 [2]儿童耳鼻咽喉头颈外科疾病北京市重点实验室 [3]首都医科大学附属北京儿童医院病理科

出　　处：《临床耳鼻咽喉头颈外科杂志》2024年第1期44-49,共6页Journal of Clinical Otorhinolaryngology Head And Neck Surgery

基　　金：国家呼吸系统疾病临床医学研究中心呼吸专项(No:HXZX-20210201);首都医科大学教育教学改革研究课题(No:2022JYY268);首都医科大学教育教学改革研究课题(No:2022JYZ026);首都医科大学国自然培育基金(No:PYZ21141)。

摘　　要：目的:探讨不同程度肾损伤的Alport综合征(alport syndrome, AS)患者远期听力变化与特点。方法:收集2007年1月至2022年9月确诊AS并完善听力学检查患者的肾脏病理、基因检测、听力检查等临床资料,进行听力及肾功能的远期随访。结果:研究纳入AS患者70例,随访到33例,失访率52.9%,随访时间1.1~15.8年,16例患者随访时间>10年。随访患者男25例,女8例,随访年龄3.4~27.8岁。10例确诊AS时听力异常者随访期间均出现进行性听力下降,随访新增听力异常者3例,于病程5~6年时出现,均为感音神经性耳聋,随访13例听力下降患者中仅3例接受助听器治疗。7例发展为终末期肾病(end-stage renal disease, ESRD),男性多见(6/7),ESRD组与非ESRD组远期听力损失率比较差异有统计学意义(P=0.013),肾病进展变化与远期听力水平无相关(P>0.05)。28例完善肾脏活检,均见基底膜厚薄不均及不同程度足细胞病变,足细胞病变严重程度与远期听力损失率相关(P=0.048),与听力损失严重程度无关(P>0.05)。11例进行基因检测,COL4A5突变多见(8/11),突变类型与听力表型无明显相关(P>0.05)。结论:AS患者听力可进行性下降,远期听力进展异质性较高,在病程5~6年时出现听力下降的概率高;听力异常与肾病状态、肾组织病理改变及突变基因密切相关,需要重视远期听力随访并尽早听力干预。Objective To investigate long-term auditory changes and characteristics of Alport syndrome(AS)patients with different degrees of renal injury.Methods Retrospectively analyzing clinical data of patients diagnosed AS from January 2007 to September 2022,including renal pathology,genetic detection and hearing examination.A long-term follow-up focusing on hearing and renal function was conducted.Results This study included 70 AS patients,of which 33(25 males,8 females,aged 3.4-27.8 years)were followed up,resulting in a loss rate of 52.9%.The follow-up period ranged from 1.1 to 15.8 years,with 16 patients followed-up for over 10 years.During the follow-up,10 patients presenting with hearing abnormalities at the time of diagnosis of AS had progressive hearing loss,and 3 patients with new hearing abnormalities were followed up,which appeared at 5-6 years of disease course.All of which were sensorineural deafness.While only 3 patients with hearing abnormalities among 13 patients received hearing aid intervention.Of these patients,7 developed end-stage renal disease(ESRD),predominantly males(6/7).The rate of long-term hearing loss was significantly different between ESRD group and non-ESRD group(P=0.013).There was no correlation between the progression of renal disease and long-term hearing level(P>0.05).kidney biopsies from 28 patients revealed varying degrees of podocyte lesion and uneven thickness of basement membrane.The severity of podocyte lesion was correlated with the rate of long-term hearing loss(P=0.048),and there was no correlation with the severity of hearing loss(P>0.05).Among 11 cases,the COL4A5 mutationwas most common(8 out of 11),but there was no significant correlation between the mutation type and hearing phenotype(P>0.05).Conclusion AS patients exhibit progressive hearing loss with significant heterogeneity over the long-term..THearing loss is more likely to occur 5-6 years into the disease course.Hearing abnormalities are closely related to renal disease status,kidney tissue pathology,and gene mutation

关 键 词：ALPORT综合征 儿童 远期随访 听力变化 

分 类 号：R764.5[医药卫生—耳鼻咽喉科]