Hereditary nephrogenic diabetes insipidus is a rare, X-linkeddisorder manifested by an inability to concentrate the urinedespite high plasma concentrations of arginine vasopressin orthe administration of large doses of vasopressin or its analogues1,2.Affected males have profound hyposmotic polyuria soon afterbirth, often leading to recurrent episodes of severe dehydration.Unless recognized and treated early, these episodes may leadto failure to thrive, growth retardation, repeated bouts ofcerebral edema with resultant mental retardation, or death.Females who are carriers of the gene for the disease have symptomsthat range from a defective urinary-concentrating ability demonstrableonly . . . [Full Text of this Article]
Methods
Patients
DNA Preparation and Analysis
Results
Discussion
Source Information
From the Molecular Pathophysiology Branch, National Institute of Diabetes, Digestive and Kidney Diseases (J.J.M., A.M.S.), and the Laboratory of Cell Biology, National Institute of Mental Health (A.-M.O., M.J.B., S.J.L.), National Institutes of Health, Bethesda, Md., and the Children's Service, Massachusetts General Hospital, Boston (J.D.C.).
Address reprint requests to Dr. Merendino at the National Institutes of Health, Bldg. 10, Rm. 8C-101, Bethesda, MD 20892.
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