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.
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