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• W1489195616 abstract "Publisher Summary Congenital nephrogenic diabetes insipidus (NDI) is a rare disorder of the kidney, characterized by the failure to concentrate urine despite normal or elevated levels of the antidiuretic hormone arginine-vasopressin. Identification of the molecular defects underlying congenital NDI is of immediate clinical significance, allowing diagnosis by gene analysis. Gene analysis should be performed in newborns with a family history for NDI and patients of all age groups with a firm diagnosis of congenital NDI, with or without a family history. There is, however, increasing evidence for the assumption that the main defect of many inactivating mutations is the reduced expression of mutant receptors on the cell surface. Here the loss of receptor function occurs regardless of the remaining biological activity of the individual protein. Progress in this field will be crucial for the understanding of the clinical phenotypes of receptor diseases on a molecular level and for the development of therapeutic strategies based on gene transfer." @default.
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• W1489195616 date "1998-01-01" @default.
• W1489195616 modified "2023-09-27" @default.
• W1489195616 title "Chapter 7 Two genes-one disease: The molecular basis of congenital nephrogenic diabetes insipidus" @default.
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• W1489195616 doi "https://doi.org/10.1016/s1569-2566(98)80015-x" @default.
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