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

  • LIU Ziqin ,
  • CHEN Xiaobo ,
  • SONG Fuying ,
  • LIU Ying ,
  • YE Xue ,
  • QIAN Ye ,
  • QIU Mingfang
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  • Department of Endocrinology, Capital Institute of Pediatrics, Beijing 100020,China

Received date: 2016-08-15

  Online published: 2016-08-15

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 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.

Cite this article

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

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