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Previous Volume 328:1534-1537 May 27, 1993 Number 21 Next

	Since this article has no abstract, we have provided an extract of the first 100 words of the full text and any section headings.

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Fundamental to the maintenance of water balance in humans is the rate at which the kidneys excrete free water, which is primarily regulated by arginine vasopressin. The antidiuretic action of arginine vasopressin requires the binding of the hormone to the renal-type (V2) vasopressin receptor, which results in the activation of adenylate cyclase, the generation of cyclic AMP (cAMP), and increased reabsorption of water across the apical membrane of the cells of the renal collecting duct¹.

Congenital nephrogenic diabetes insipidus is a rare hereditary disorder in which renal responsiveness to arginine vasopressin is impaired. In some families, the disorder is . . . [Full Text of this Article]

Methods

Subjects

Screening for Mutations

PCR Amplification and Subcloning

PCR-Based Mutation Analysis

Direct PCR Sequencing

Linkage Analysis

Results

DNA Sequencing and PCR Analysis of the Mutation

Correlation of the Mutation with the Disorder

Discussion

Source Information

From the Renal Unit, Massachusetts General Hospital, and the Department of Medicine, Harvard Medical School, Boston (E.J.H., L.F.K., D.A.A.), and the Division of Nephrology, Children's Hospital, and the Department of Pediatrics, Harvard Medical School, Boston (H.W.H., L.M.G.-W., B.B.).

Address reprint requests to Dr. Harris at the Department of Pediatrics, Harvard Medical School, 300 Longwood Ave., Boston, MA 02115.

References

This article has been cited by other articles:

• Carr, M., Gill, D. (2007). Polyuria, polydipsia, polypopsia: "Mummy I want a drink". EDUCATION AND PRACTICE 92: ep139-ep143 [Full Text]  
• Inaba, S., Hatakeyama, H., Taniguchi, N., Miyamori, I. (2001). The Property of a Novel V2 Receptor Mutant in a Patient with Nephrogenic Diabetes Insipidus. J. Clin. Endocrinol. Metab. 86: 381-385 [Abstract] [Full Text]  
• ARTHUS, M.-F., LONERGAN, M., CRUMLEY, M. J., NAUMOVA, A. K., MORIN, D., DE MARCO, L. A., KAPLAN, B. S., ROBERTSON, G. L., SASAKI, S., MORGAN, K., BICHET, D. G., FUJIWARA, T. M. (2000). Report of 33 Novel AVPR2 Mutations and Analysis of 117 Families with X-Linked Nephrogenic Diabetes Insipidus. J. Am. Soc. Nephrol. 11: 1044-1054 [Abstract] [Full Text]  
• VAN LIEBURG, A. F., KNOERS, N. V. A. M., MONNENS, L. A. H. (1999). Clinical Presentation and Follow-Up of 30 Patients with Congenital Nephrogenic Diabetes Insipidus. J. Am. Soc. Nephrol. 10: 1958-1964 [Abstract] [Full Text]  
• Goji, K., Kuwahara, M., Gu, Y., Matsuo, M., Marumo, F., Sasaki, S. (1998). Novel Mutations in Aquaporin-2 Gene in Female Siblings with Nephrogenic Diabetes Insipidus: Evidence of Disrupted Water Channel Function. J. Clin. Endocrinol. Metab. 83: 3205-3209 [Abstract] [Full Text]  
• Lightman, S. L. (1993). Molecular Insights into Diabetes Insipidus. NEJM 328: 1562-1563 [Full Text]