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Vasopressin receptor mutations causing nephrogenic diabetes insipidus.
Proc Assoc Am Physicians. 1998 Sep-Oct; 110(5):387-94.PA

Abstract

In congenital nephrogenic diabetes insipidus, the renal collecting ducts are resistant to the antidiuretic action of arginine vasopressin or to its antidiuretic analog 1-deamino[8-D-arginine] vasopressin (dDAVP). This is a rare, but now well described entity secondary to either mutations in the AVPR2 gene that codes for the vasopressin antidiuretic (V2) receptor or to mutations in the AQP2 gene that codes for the vasopressin-dependent water channel. A majority (> 90%) of congenital nephrogenic diabetes insipidus patients have AVPR2 mutations: Of 115 families with congenital nephrogenic diabetes insipidus, 105 families had AVPR2 mutations, and 10 had AQP2 mutations. When studied in vitro, most AVPR2 mutations lead to receptors that are trapped intracellularly and are unable to reach the plasma membrane. A minority of the mutant receptors reach the cell surface but are unable to bind vasopressin or to trigger an intracellular adenosine 3:5-cyclic phosphate signal properly. Most of the reported mutations are secondary to a complete loss of function of the receptor, and only a few mutations have been associated with a mild phenotype. These advances provide diagnostic tools for physicians caring for these patients because, when the disease causing mutation has been identified, carrier and perinatal testing could be done by mutation analysis.

Authors+Show Affiliations

Department of Medecine, Université de Montréal and Research Center, Hôpital du Sacré-Coeur de Montréal, Québec, Canada.No affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't
Review

Language

eng

PubMed ID

9756088

Citation

Bichet, D G., et al. "Vasopressin Receptor Mutations Causing Nephrogenic Diabetes Insipidus." Proceedings of the Association of American Physicians, vol. 110, no. 5, 1998, pp. 387-94.
Bichet DG, Turner M, Morin D. Vasopressin receptor mutations causing nephrogenic diabetes insipidus. Proc Assoc Am Physicians. 1998;110(5):387-94.
Bichet, D. G., Turner, M., & Morin, D. (1998). Vasopressin receptor mutations causing nephrogenic diabetes insipidus. Proceedings of the Association of American Physicians, 110(5), 387-94.
Bichet DG, Turner M, Morin D. Vasopressin Receptor Mutations Causing Nephrogenic Diabetes Insipidus. Proc Assoc Am Physicians. 1998 Sep-Oct;110(5):387-94. PubMed PMID: 9756088.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Vasopressin receptor mutations causing nephrogenic diabetes insipidus. AU - Bichet,D G, AU - Turner,M, AU - Morin,D, PY - 1998/10/2/pubmed PY - 1998/10/2/medline PY - 1998/10/2/entrez SP - 387 EP - 94 JF - Proceedings of the Association of American Physicians JO - Proc. Assoc. Am. Physicians VL - 110 IS - 5 N2 - In congenital nephrogenic diabetes insipidus, the renal collecting ducts are resistant to the antidiuretic action of arginine vasopressin or to its antidiuretic analog 1-deamino[8-D-arginine] vasopressin (dDAVP). This is a rare, but now well described entity secondary to either mutations in the AVPR2 gene that codes for the vasopressin antidiuretic (V2) receptor or to mutations in the AQP2 gene that codes for the vasopressin-dependent water channel. A majority (> 90%) of congenital nephrogenic diabetes insipidus patients have AVPR2 mutations: Of 115 families with congenital nephrogenic diabetes insipidus, 105 families had AVPR2 mutations, and 10 had AQP2 mutations. When studied in vitro, most AVPR2 mutations lead to receptors that are trapped intracellularly and are unable to reach the plasma membrane. A minority of the mutant receptors reach the cell surface but are unable to bind vasopressin or to trigger an intracellular adenosine 3:5-cyclic phosphate signal properly. Most of the reported mutations are secondary to a complete loss of function of the receptor, and only a few mutations have been associated with a mild phenotype. These advances provide diagnostic tools for physicians caring for these patients because, when the disease causing mutation has been identified, carrier and perinatal testing could be done by mutation analysis. SN - 1081-650X UR - https://www.unboundmedicine.com/medline/citation/9756088/Vasopressin_receptor_mutations_causing_nephrogenic_diabetes_insipidus_ L2 - http://www.diseaseinfosearch.org/result/2238 DB - PRIME DP - Unbound Medicine ER -