Tomozumi Takatani   Kaoru Matsuo   Kaori Kinoshita   Rieko Takatani   Masanori Minagawa   Yoichi Kohno   
Journal of pediatric endocrinology & metabolism : JPEM 23(4) 415-8 2010年4月
We describe an infant with nephrogenic diabetes insipidus (NDI) with a novel mutation in the arginine vasopressin receptor 2 (AVPR2) gene. A 1-month-old infant showed failure to thrive and hypernatremia. The water deprivation test revealed elevate...