Congenital nephrogenic diabetes insipidus：2 cases report of brothers and review

VernacularTitle:兄弟同患遗传性肾性尿崩症2例报告并文献复习
Author: Ziqin LIU ; Xiaobo CHEN ; Fuying SONG ; Mingfang QIU ; Ying LIU ; Xue YE ; Ye QIAN
Publication Type:Journal Article
Keywords: nephrogenic diabetes insipidus; AQP2 gene; amiloride
From: Journal of Clinical Pediatrics 2016;34(8):606-609
CountryChina
Language:Chinese
Abstract: Objective Congenital nephrogenic diabetes insipidus (CNDI) is a rare disease, the aim of this article is to help better understanding of this disease. Methods The clinical features, genetic analysis and treatments of two siblings with CNDI were retrospectively analyzed, and related literatures were reviewed. Results Both brothers had polydispia, polyuria and low concentrate urine continuously, and they both had a mutation in AQP 2 conifrmmed with Sanger sequencing. This novel frame shift mutation caused arginine of 254 to histidine, and prolonged AQP 2 protein. Conclusions Gene analysis can help diagnosis of CNDI. Amiloride is useful option for treatment.