Congenital nephrogenic diabetes insipidus:2 cases report of brothers and review / 临床儿科杂志
Journal of Clinical Pediatrics
;
(12): 606-609, 2016.
Artigo
em Chinês
| WPRIM
| ID: wpr-498416
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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Idioma:
Chinês
Revista:
Journal of Clinical Pediatrics
Ano de publicação:
2016
Tipo de documento:
Artigo
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