[Vasopressin type 2 receptor mutations in congenital diabetes insipidus].
Congenital nephrogenic diabetes insipidus is a rare inherited disorder, which is characterized by the inability of the kidney to concentrate urine due to unresponsiveness to antiduretic hormone arginine vasopressin. Defects must be present somewhere in a vasopressin signal transduction pathway in kidney collecting duct. Recent genetic analysis demonstrated that mutations in vasopressin type 2 receptor and water channel aquaporin 2 are responsible for x-linked and autosomal recessive form, respectively. Expression studies of mutant proteins showed that most of the mutations cause severe functional defects, which are compatible with clinical phenotypes. These advances help understanding of molecular mechanism underlying this disease and therefore improve diagnostic and therapeutic approaches.
2nd Department of Internal Medicine, Kansai Medical University.
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Tsukaguchi
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Matsubara
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Inada
D000818:Animals; D051399:Aquaporin 2; D051403:Aquaporin 6; D020346:Aquaporins / Q000235:genetics*; D003919:Diabetes Insipidus / Q000151:congenital* / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D006580:Genetic Carrier Screening; D006801:Humans; D008297:Male; D009154:Mutation; D017483:Receptors, Vasopressin / Q000235:genetics*
C496023:AQP2 protein, human; D051399:Aquaporin 2; D051403:Aquaporin 6; D020346:Aquaporins; D017483:Receptors, Vasopressin