以无症状蛋白尿为突出表现的 LMX1B基因相关疾病  

LMX1B-associated disease presented with prominent asymptomatic proteinuria

作　　者：王芳[1] 李白虹 刘晓宇[1] 肖慧捷[1] 姚勇[1] 王素霞[2] 张琰琴[1] 丁洁[1] Wang Fang;Li Baihong;Liu Xiaoyu;Xiao Huijie;Yao Yong;Wang Suxia;Zhang Yanqin;Ding Jie(Department of Pediatrics,Peking University First Hospital,Beijing 100034,China;Departments of Electron Microscopy,Peking University First Hospital,Beijing 100034,China)

机构地区：[1]北京大学第一医院儿科,北京100034 [2]北京大学第一医院电镜室,北京100034

出　　处：《中华实用儿科临床杂志》2022年第9期706-709,共4页Chinese Journal of Applied Clinical Pediatrics

基　　金：国家重点研究发展计划(2016YFC0901505);国家科技支撑计划(2012BAI03B02);儿科遗传性疾病分子诊断与研究北京市重点实验室(Z141107004414036)。

摘　　要：目的总结和分析3例以无症状肾小球性蛋白尿为突出表现的LMX1B基因相关疾病患儿临床资料, 以提高临床医师对基因突变致无症状蛋白尿的认识。方法回顾性分析2014年4月至2017年10月在北京大学第一医院儿科住院的3例以无症状蛋白尿为突出表现, 经目标区域捕获二代测序和Sanger测序确诊为LMX1B基因相关疾病的患儿为研究对象, 分析其临床资料, 包括肾脏和肾外表现、肾活检病理结果和家族史。结果 3例患儿均为女童, 分别于2岁、1岁和4岁起病, 明确诊断时的年龄分别为11岁、5岁和6岁。均有肾小球性蛋白尿, 其中1例患儿蛋白尿达肾病水平。2例患儿有镜下血尿。肾功能均正常。仅1例患儿行肾活检, 且为重复肾活检。第1次肾活检组织电镜下观察到肾小球基底膜节段变薄, 间隔4年后的第2次肾活检组织电镜下观察到肾小球基底膜不规则增厚伴"虫蚀样"改变和胶原纤维样物质沉积。体格检查示3例患儿均无指甲、四肢和关节异常。2例患儿有肾脏病家族史。结论儿童期隐匿起病, 临床未找到明确病因的无症状蛋白尿要警惕遗传因素, 通过基因检测有助于及早诊断并指导治疗。Objective To analyze clinical data of 3 children with LMX1B-associated disease characterized by asymptomatic glomerular proteinuria,thus improving the recognition of asymptomatic proteinuria with genetic causes.Methods Three patients with LMX1B-associated disease presented with prominent asymptomatic proteinuria diagnosed by the next-generation sequencing in Department of Pediatrics,Peking University First Hospital from April 2014 to October 2017 were included in this study.Clinical data,including renal and extrarenal manifestations,renal biopsy,and family history,were collected and retrospectively analyzed.Results All 3 children were girls,the age of onset were 2 years,1 year,and 4 years,respectively,and the diagnosis age were 11 years,5 years and 6 years,respectively.All of them had glomerular proteinuria,and nephrotic-level proteinuria occurred in one patient.Microscopic hematuria was found in 2 patients.All of them had normal renal function.Only one patient underwent renal biopsy.Electron microscopy of the first time of biopsy revealed segmental thinning of the glomerular basement membrane.Re-biopsy 4 years later showed irregular thickening of the glomerular basement membrane,moth-eaten appearance and collagen fibrillar material deposition.No abnormalities of nails,limbs and joints were observed by physical examination.Two patients had a family history of renal disease.Conclusions Genetic factors should be considered in children with obscure onset asymptomatic proteinuria without definite clinical causes.Genetic testing can help diagnose and guide treatment as early as possible.

关 键 词：无症状蛋白尿 LMX1B基因 突变 二代测序 

分 类 号：R726.9[医药卫生—儿科]