Panli Liao, Tianchao Xiang, Hongxia Li, Ye Fang, Xiaoyan Fang, Zhiqing Zhang, Qi Cao, Yihui Zhai, Jing Chen, Linan Xu, Jialu Liu, Xiaoshan Tang, Xiaorong Liu, Xiaowen Wang, Jiangwei Luan, Qian Shen, Lizhi Chen, Xiaoyun Jiang, Duan Ma, Hong Xu, Jia Rao
Congenital nephrogenic diabetes insipidus (NDI) is a rare genetic disorder characterized by renal inability to concentrate urine. We utilized a multicenter strategy to investigate the genotype and phenotype in a cohort of Chinese children clinically diagnosed with NDI from 2014 to 2019. Ten boys from nine families were identified with mutations in AVPR2 or AQP2 along with dehydration, polyuria-polydipsia, and severe hypernatremia. Genetic screening confirmed the diagnosis of seven additional relatives with partial or subclinical NDI...
2021: Frontiers in Pediatrics