COL4A5突变Alport综合征儿童临床表型分析(附31例报告)  

Features of clinical phenotype in children with Alport syndrome with COL4A5 mutations:A report of 31 cases

作　　者：周倩 匡新宇[1] 孙蕾[1] 胡玉杰[1] 钮小玲[1] 张丽宁 黄文彦[1] ZHOU Qian;KUANG Xin-yu;SUN Lei(Department of Nephrology and Rheumatology,Shanghai Children＇s Hospital,Shanghai Jiao Tong University,Shanghai 200040,China)

机构地区：[1]上海交通大学附属儿童医院上海市儿童医院肾脏风湿科,上海200040

出　　处：《中国实用儿科杂志》2018年第11期895-899,共5页Chinese Journal of Practical Pediatrics

基　　金：上海交通大学医学院精准医学项目(15ZH4008);上海交通大学医学院转化医学项目(15ZH1007)

摘　　要：目的探讨儿童X-连锁显性遗传性Alport综合征临床表型和基因型的特征。方法回顾性分析2011年6月至2016年6月上海交通大学附属儿童医院肾脏风湿科确诊的31例COL4A5基因突变的X-连锁Alport综合征患儿的临床特征和病理特点。结果 (1)31例患儿中共12例(38.7%)女性,19例(61.3%)男性,平均发病年龄2.6岁。13例患儿以血尿合并蛋白尿起病,22例患儿有阳性家族史。1例患儿有眼部病变,2例患儿听力受损。(2)26例行肾穿刺检查,病理提示15例表现为轻微病变,5例系膜增生,仅6例符合AS的典型改变。(3)共检出31种基因突变,19例错义突变,2例大片段删除,4例剪接突变,6例框移突变。19例错义突变中16例突变为Gly-X-Y型突变。结论 X-连锁显性Alport综合征患儿病理表现多为轻微病变,基因突变以错义突变最为多见,其临床特征和病理表现不典型易引起临床医生的忽视。Objective To analyze the features of clinical manifestions and gene mutations of Chinesse children with X-linked Alport syndrome（XLAS）. Methods Retrospectively analyze the clinical and pathological features of 31 patients with Alport syndrome with COL4 A5 mutations,who were treated in Shanghai Children＇s Hospital from June2011 to June 2016. Results Of these 31 cases,there were 12（38.7%）females and 19（61.3%）males,and the average age of onset was 2.6 years old. Thirteen patients had an onset of hematuria and proteinuria and 22（70.9%）patients had family medical history. One patient presented ocular changes and 2 patients had hearing loss. Renal pathology showed that 15 of them had minimal change disease（MCD）and 5 mesangial proliferative glomerulonephritis,and only 6 had typical pathologic changes of Alport syndrome. We identified 31 different mutations in all patients,and there were 19（61.3%）cases of missense mutations,2（6.5%）cases of large deletion mutations,4（12.9%）cases of spice-site mutations and 6（19.3%）cases of frame shift mutations. Among these 19 missense mutations,16（84.2%）cases were Gly-X-Y mutations. Conclusion Most of XLAS children show MCD in renal biopsy and had missense mutations in COL4 A5 gene. Clinical symptoms and pathology are not typical,resulting in the difficulities in diagnosis of Alport syndrome.

关 键 词：COL4A5突变 ALPORT综合征 儿童 肾脏 

分 类 号：R72[医药卫生—儿科]