• S Ishikawa.
• Department of Medicine, Jichi Medical School, Japan.
• Nippon Rinsho. 1996 Mar 1;54(3):819-24.

AbstractThe present paper reviews the recent progress of analysis of nephrogenic diabetes insipidus (NDI). NDI has been considered as a X-linked recessive inheritance. Arginine vasopressin (AVP) V2 receptors were cloned and characterized its structural and functional properties. The gene of AVP V2 receptors is localized in X chromosome q27-28. The mutations of AVP V2 receptor gene have been clarified in patients with NDI. They accounted for approximately 30 kinds of mutations, including deletion and insertion of nucleotide, and point mutation of nucleotides. The mutant receptors have an inability to bind to AVP ligand or activate adenylate cyclase, a post-receptor signal transduction. Also, there are patients with NDI, who were considered as an autosomal dominant or autosomal recessive inheritance. Water channel aquaporin of collecting duct (AQP-2) was cloned and characterized, which is localized in chromosome 12q13. Recent studies elucidated the mutations of AQP-2 gene in several families with autosomal recessive NDI. Also, the mutations of AQP-2 gene were found in patients with NDI, who were thought as autosomal dominant inheritance. Therefore, both mutations of AVP V2 receptors and AQP-2 are involved in pathogenesis of NDI.

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