A novel missense mutation in the AVPR2 gene of a Japanese infant with nephrogenic diabetes insipidus.

@article{Takatani2010ANM,
  title={A novel missense mutation in the AVPR2 gene of a Japanese infant with nephrogenic diabetes insipidus.},
  author={Tomozumi Takatani and Kaoru Matsuo and Kaori Kinoshita and Rieko Takatani and Masanori Minagawa and Yoichi Kohno},
  journal={Journal of pediatric endocrinology & metabolism : JPEM},
  year={2010},
  volume={23 4},
  pages={415-8}
}
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 elevated serum osmolality and low urine osmolality. The patient showed a slight but not significant response to intramuscular injection of arginine vasopressin (AVP). DNA analysis revealed a novel missense mutation involving substitution of proline for… CONTINUE READING
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