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Molecular Biology of Hereditary Diabetes Insipidus

T. Mary Fujiwara^* and Daniel G. Bichet

^* Departments of Human Genetics and Medicine, McGill University, Montreal, Quebec, Canada; and Genetics of Renal Diseases, Groupe d’étude des protéines membranaires, and Université de Montréal, Research Center and Nephrology Service, Hôpital du Sacré-Coeur de Montréal, Montréal, Québec, Canada

Address correspondence to: Dr. Daniel G. Bichet, Research Center, Hôpital du Sacré-Coeur de Montréal, 5400 Boulevard Gouin Ouest, Montréal, Québec, H4J 1C5 Canada. Phone: 514-338-2486; Fax: 514-338-2694; E-mail: daniel.bichet{at}umontreal.ca

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 NDI: A "pure" type characterized by loss of water only and a complex type characterized by loss of water and ions. Patients who have congenital NDI and bear mutations in the AVPR2 or AQP2 genes have a "pure" NDI phenotype with loss of water but normal conservation of sodium, potassium, chloride, and calcium. Patients who bear inactivating mutations in genes (SLC12A1, KCNJ1, CLCNKB, CLCNKA and CLCNKB in combination, or BSND) that encode the membrane proteins of the thick ascending limb of the loop of Henle have a complex polyuro-polydipsic syndrome with loss of water, sodium, chloride, calcium, magnesium, and potassium. These advances provide diagnostic and clinical tools for physicians who care for these patients.

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