Molecular biology of hereditary diabetes insipidus

TM Fujiwara, DG Bichet - Journal of the American Society of …, 2005 - journals.lww.com
The identification, characterization, and mutational analysis of three different genes—the
arginine vasopressin gene (AVP), the arginine vasopressin receptor 2 gene (AVPR2), and
the vasopressin-sensitive water channel gene (aquaporin 2 [AQP2])—provide the basis for
understanding of three different hereditary forms of “pure” diabetes insipidus:
Neurohypophyseal diabetes insipidus, X-linked nephrogenic diabetes insipidus (NDI), and
non–X-linked NDI, respectively. It is clinically useful to distinguish two types of hereditary …