机构：[1]Department of Nephrology, The Children's Hospital, Zhejiang University School of Medicine, National clinical research center for child health, Hangzhou, China[2]Department of Nephrology, Children's Hospital of Fudan University, Shanghai, China[3]Shanghai Kidney Development and Pediatric Kidney Disease Research Center, Shanghai, China[4]Shanghai Key Lab of Birth Defect, Children's Hospital of Fudan University, Shanghai, China[5]Department of Nephrology, Nanjing Children's Hospital Affiliated to Nanjing Medical University, Nanjing, China[6]Nanjing Key Laboratory of Pediatrics, Children's Hospital of Nanjing Medical University Nanjing, China[7]Department of Nephrology, Bejing Children's Hospital Affiliated to Capital University of Medical Science, Beijing, China临床科室肾脏科首都医科大学附属北京儿童医院[8]Beijing Children's Key Laboratory of Chronic Kidney Disease and Blood Purification, Beijing, China首都医科大学附属北京儿童医院[9]Department of Pediatric Nephrology and Rheumatology, Shengfing Hospital of China Medical University, Shenyang, China内科科室肾脏内科风湿免疫科中国医科大学盛京医院[10]Department of Pediatrics, Peking Union Medical College Hospital, Beijing, China[11]Department of Pediatric, Nephrology, Rheumatism and Immunology, Shandong Provincial Hospital, Jinan, China[12]Department of Pediatric, Xiangya Hospital Central South University, Changsha, China
Dent disease is a rare X-linked recessive inherited tubular disease. In this multicenter study, the clinical presentation and genetic background of Chinese children with Dent disease are studied to improve the cognition and diagnostic ability of pediatricians. In this prospective cohort, we described the genotype and phenotype of a national cohort composed of 45 pediatric probands with Dent disease belonging to 45 families from 12 different regions of China recruited from 2014 to 2018 by building up the multicenter registration system. The CLCN5 gene from 32 affected families revealed 28 different mutations. The OCRL gene from 13 affected families revealed 13 different mutations. The incidence of low-molecular-weight proteinuria (LMWP) in both Dent disease type 1 populations and Dent disease type 2 populations was 100.0%; however, the incidence of other manifestations was not high, which was similar to previously reported data. Therefore, LMWP is a key clinical feature that should alert clinicians to the possibility of Dent disease. A high amount of LMWP combined with positive gene test results can be used as the diagnostic criteria for this disease. The diagnostic criteria are helpful in reducing the missed diagnosis of this disease and are beneficial for protecting the renal function of these patients through early diagnosis and early intervention. This article is protected by copyright. All rights reserved.
This article is protected by copyright. All rights reserved.
基金：
This study was supported by the National Natural
Foundation of China (81501760, 81470939, 81270792 and 81170664).
第一作者机构：[1]Department of Nephrology, The Children's Hospital, Zhejiang University School of Medicine, National clinical research center for child health, Hangzhou, China
共同第一作者：
通讯作者：
通讯机构：[1]Department of Nephrology, The Children's Hospital, Zhejiang University School of Medicine, National clinical research center for child health, Hangzhou, China[2]Department of Nephrology, Children's Hospital of Fudan University, Shanghai, China[3]Shanghai Kidney Development and Pediatric Kidney Disease Research Center, Shanghai, China[4]Shanghai Key Lab of Birth Defect, Children's Hospital of Fudan University, Shanghai, China[*1]Department of Nephrology, the Children's Hospital, Zhejiang University School of Medicine, National clinical research center for child health, 3333 Binsheng Road, Hangzhou, China.[*2]Department of Nephrology, Children's Hospital of Fudan University, National Paediatric Medical Centre of China, 399 Wanyuan Road, Shanghai, China.
推荐引用方式(GB/T 7714)：
Ye Qing,Shen Qian,Rao Jia,et al.Multicenter study of the clinical features and mutation gene spectrum of Chinese children with Dent disease.[J].CLINICAL GENETICS.2019,97(3):407-417.doi:10.1111/cge.13663.
APA：
Ye Qing,Shen Qian,Rao Jia,Zhang Aihua,Zheng Bixia...&Mao Jianhua.(2019).Multicenter study of the clinical features and mutation gene spectrum of Chinese children with Dent disease..CLINICAL GENETICS,97,(3)
MLA：
Ye Qing,et al."Multicenter study of the clinical features and mutation gene spectrum of Chinese children with Dent disease.".CLINICAL GENETICS 97..3(2019):407-417
