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 AQP2 confirmmed with Sanger sequencing. This novel frame shift mutation caused arginine of 254 to histidine, and prolonged AQP2 protein. Conclusions Gene analysis can help diagnosis of CNDI. Amiloride is useful option for treatment.
LIU Ziqin
,
CHEN Xiaobo
,
SONG Fuying
,
LIU Ying
,
YE Xue
,
QIAN Ye
,
QIU Mingfang
. Congenital nephrogenic diabetes insipidus: 2 cases report of brothers and review[J]. Journal of Clinical Pediatrics, 2016
, 34(8)
: 606
.
DOI: 10.3969/j.issn.1000-3606.2016.08.011
