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Original Article
Brief Report
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Volume 328:1538-1541 May 27, 1993 Number 21
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A Mutation in the Vasopressin V2-Receptor Gene in a Kindred with X-Linked Nephrogenic Diabetes Insipidus
John J. Merendino, Allen M. Spiegel, John D. Crawford, Anne-Marie O'Carroll, Michael J. Brownstein, and Stephen J. Lolait

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Hereditary nephrogenic diabetes insipidus is a rare, X-linked disorder manifested by an inability to concentrate the urine despite high plasma concentrations of arginine vasopressin or the administration of large doses of vasopressin or its analogues1,2. Affected males have profound hyposmotic polyuria soon after birth, often leading to recurrent episodes of severe dehydration. Unless recognized and treated early, these episodes may lead to failure to thrive, growth retardation, repeated bouts of cerebral edema with resultant mental retardation, or death. Females who are carriers of the gene for the disease have symptoms that range from a defective urinary-concentrating ability demonstrable only . . . [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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