Abstract
The molecular cloning and characterization of receptors for the nonapeptide hormone family vasopressin-oxytocin was rapidly followed by the identification of mutations in the V2 receptor gene segregating with the clinical phenotype in more than a hundred families with X-linked nephrogenic diabetes insipidus. Together with the recent cloning of the vasopressin-regulated water channel in the apical membrane of the collecting duct tubule and of the identification of rare autosomal recessive nephrogenic diabetes insipidus patients with mutations in the AQP2 gene, these developments enable carrier detection and early diagnosis of infants with congenital nephrogenic diabetes insipidus.
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