Phenotype and genotype spectra of a Chinese cohort with nephronophthisis-related ciliopathy

肾结核 睫状体病 队列 基因型 表型 内科学 生物 基因型-表型区分 遗传学 医学 基因
作者
Xiaoshan Tang,Cuihua Liu,Xiao‐Rong Liu,Jing Chen,Xiaoyan Fan,Jialu Liu,Duan Ma,Guanghai Cao,Zhi Chen,Daliang Xu,Ying Zhu,Xiaoyun Jiang,Cheng Li-zhi,Yubing Wu,Ling Hou,Yuhong Li,Xiaoshan M. Shao,Shasha Zheng,Aihua Zhang,Bixia Zheng
出处
期刊:Journal of Medical Genetics [BMJ]
卷期号:59 (2): 147-154 被引量:25
标识
DOI:10.1136/jmedgenet-2020-107184
摘要

Background Nephronophthisis-related ciliopathies (NPHP-RC) account for the majority of cases of monogenetically caused end-stage renal disease (ESRD) in children. Exploring the correlation between the phenotype and genotype of NPHP-RC is helpful for early diagnosis and management. We investigated the phenotype and genotype spectra of NPHP-RC in a Chinese multicentre cohort. Methods Crosss-ectional and longitudinal data of 60 patients from 57 families with pathogenic NPHP-RC gene mutations distributed in 22 regions of China were collected into a unified, anonymous database. The mean observation time of this cohort was 3.5±3.1 years. Results Mutations in NPHP1 and NPHP3 were the most common genetic defects. Overall, 45% of patients presented with isolated nephronophthisis (NPH), and 55% exhibited the extrarenal phenotype, which frequently involved the liver (41.7%, n=25), central nervous system (26.7%, n=16), eyes (26.7%, n=16) and skeletal system (11.7%, n=7). Accidental detection of elevated serum creatinine and non-specific symptoms caused by chronic kidney disease occurred in 65% of patients. Patients carrying NPHP1 mutations mainly presented with isolated NPH (90%, 18/20) and progressed to ESRD at a mean age of 12.9±0.5 years. The mean age of ESRD onset in the non- NPHP1 group was lower than that in the NPHP1 group (6.2±1.4 years, p<0.001), especially for patients carrying NPHP3 mutations (3.1±1.2 years), showing a heterogeneous phenotype characterised by Bardet-Biedl syndrome (12.5%, n=5), Joubert syndrome (7.5%, n=3), COACH syndrome (2.5%, n=1), Mainzer-Saldino syndrome (2.5%, n=1), short-rib thoracic dysplasia (2.5%, n=1) and unclassified symptoms (32.5%, n=13). Conclusions The Chinese Children Genetic Kidney Disease Database registry characterised the spectrum of the phenotype and genotype of NPHP-RC in the Chinese population. NPHP1 and NPHP3 were the most common pathogenic genes. Rapid progression to ESRD and liver involvement were noted in patients with NPHP3 mutations.
最长约 10秒,即可获得该文献文件

科研通智能强力驱动
Strongly Powered by AbleSci AI
更新
PDF的下载单位、IP信息已删除 (2025-6-4)

科研通是完全免费的文献互助平台,具备全网最快的应助速度,最高的求助完成率。 对每一个文献求助,科研通都将尽心尽力,给求助人一个满意的交代。
实时播报
李东东完成签到 ,获得积分10
1秒前
王多肉完成签到,获得积分10
5秒前
Iiiilr完成签到 ,获得积分10
6秒前
杨幂完成签到,获得积分10
7秒前
14秒前
hellokitty完成签到,获得积分10
17秒前
17秒前
小四发布了新的文献求助10
18秒前
24秒前
西瓜完成签到 ,获得积分10
24秒前
包容的忆灵完成签到 ,获得积分10
27秒前
高兴尔冬发布了新的文献求助10
29秒前
xiang完成签到 ,获得积分0
32秒前
小四完成签到,获得积分10
35秒前
FashionBoy应助slayers采纳,获得30
41秒前
量子星尘发布了新的文献求助10
44秒前
黑眼圈完成签到 ,获得积分10
50秒前
jia完成签到 ,获得积分10
51秒前
如履平川完成签到 ,获得积分10
52秒前
科目三应助忧伤的步美采纳,获得10
53秒前
大椒完成签到 ,获得积分10
56秒前
59秒前
1分钟前
wisdom完成签到,获得积分10
1分钟前
slayers发布了新的文献求助30
1分钟前
1分钟前
e746700020完成签到,获得积分10
1分钟前
高兴尔冬完成签到,获得积分10
1分钟前
李爱国应助不安的秋白采纳,获得10
1分钟前
忧伤的步美完成签到,获得积分10
1分钟前
小西完成签到 ,获得积分10
1分钟前
郝老头完成签到,获得积分10
1分钟前
13313完成签到,获得积分10
1分钟前
su完成签到 ,获得积分10
1分钟前
1分钟前
1分钟前
量子星尘发布了新的文献求助10
1分钟前
slayers完成签到 ,获得积分10
1分钟前
1分钟前
知犯何逆完成签到,获得积分10
1分钟前
高分求助中
【提示信息,请勿应助】关于scihub 10000
Les Mantodea de Guyane: Insecta, Polyneoptera [The Mantids of French Guiana] 3000
徐淮辽南地区新元古代叠层石及生物地层 3000
The Mother of All Tableaux: Order, Equivalence, and Geometry in the Large-scale Structure of Optimality Theory 3000
Handbook of Industrial Diamonds.Vol2 1100
Global Eyelash Assessment scale (GEA) 1000
Picture Books with Same-sex Parented Families: Unintentional Censorship 550
热门求助领域 (近24小时)
化学 材料科学 医学 生物 工程类 有机化学 生物化学 物理 内科学 纳米技术 计算机科学 化学工程 复合材料 遗传学 基因 物理化学 催化作用 冶金 细胞生物学 免疫学
热门帖子
关注 科研通微信公众号,转发送积分 4038039
求助须知:如何正确求助?哪些是违规求助? 3575756
关于积分的说明 11373782
捐赠科研通 3305574
什么是DOI,文献DOI怎么找? 1819239
邀请新用户注册赠送积分活动 892655
科研通“疑难数据库(出版商)”最低求助积分说明 815022