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Clinical Chemistry 46: 1699-1702, 2000;
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(Clinical Chemistry. 2000;46:1699-1702.)
© 2000 American Association for Clinical Chemistry, Inc.

Technical Briefs

Identification of Two Distinct Mutations at the Same Nucleotide Position, Concomitantly with a Novel Polymorphism in the Vasopressin-Neurophysin II Gene (AVP-NP II) in Two Dutch Families with Familial Neurohypophyseal Diabetes Insipidus

André P. Abbes1, Bennie Bruggeman1, Erica L.T. van den Akker3, Marco R. de Groot4, Anton A.M. Franken2, Valentijn R. Drexhage5 and Henk Engel1,a

Departments of
1 Clinical Chemistry and
2 Internal Medicine, Isala klinieken, Location Sophia, Dr. C.A. van Heesweg 2, 8025 AB Zwolle, The Netherlands
3 Department of Endocrinology, Sophia Children Hospital, Dr. Molewaterplein 60, 3015 GJ Rotterdam, The Netherlands

4 Department of Internal Medicine, Medisch Spectrum Twente, Dr. Ariënsplein 1, 7500 KA Enschede, The Netherlands

5 Department of Pediatrics, Walcheren Hospital, Koudekerkseweg 88, 4380 DD Vlissingen, The Netherlands
a address correspondence to this author at: Department of Clinical Chemistry, Isala klinieken, Location Sophia, Dr. C.A. van Heesweg 2, 8025 AB Zwolle, The Netherlands; fax 31-38-424-7610, e-mail a.p.abbes@isala.nl

Familial neurohypophyseal diabetes insipidus (FNDI) is a rare autosomal dominant inherited disease, characterized by serious polyuria and polydipsia, caused by deficient neurosecretion of the antidiuretic hormone, arginine vasopressin (AVP). Vasopressin is a hormone that affects peripherally and centrally regulated functions such as antidiuresis and blood pressure regulation in peripheral tissues and temperature regulation in the central nervous system (1). The antidiuretic function of AVP controls the serum osmolality by stimulating renal water resorption (1)(2). In patients with FNDI, there is insufficient release of AVP, leading to insufficient stimulation of renal water resorption (1)(3)(4)(5). Often, these patients have a constant feeling of thirst that leads to an excessive water intake to compensate for the high urinary output.

FNDI is currently diagnosed by means of the patient-unfriendly water dehydration test in which the patient is deprived of water intake for a certain period. In the case of vasopressin deficiency, there will be continuing water loss, producing weight loss and hypertonic dehydration (4), which can be dangerous if the patient is not carefully observed during the test.

The onset of FNDI is delayed (early childhood) because of the progressive accumulation of the mutant AVP in the AVP-producing cells. The accumulation of the mutant AVP, as a result of (constant) osmotic stimuli, leads to a slowly progressive degeneration of the AVP-producing cells (2)(6).

The molecular background of FNDI is heterogeneous (2)(3)(5)(7)(8), with 33 mutations in the AVP-NP II gene described (Table 1 ).


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  		Table 1. Overview of all published mutations in the AVP-NP II gene (partially adapted from the AVP Human Gene Mutation Database, The . . . [Full Text of this Article]


Acknowledgments


References




The following articles in journals at HighWire Press have cited this article:


Home page
 J. Clin. Endocrinol. Metab.Home page
S. Rittig, C. Siggaard, M. Ozata, I. Yetkin, N. Gregersen, E. B. Pedersen, and G. L. Robertson
Autosomal Dominant Neurohypophyseal Diabetes Insipidus due to Substitution of Histidine for Tyrosine2 in the Vasopressin Moiety of the Hormone Precursor
J. Clin. Endocrinol. Metab., July 1, 2002; 87(7): 3351 - 3355.
[Abstract] [Full Text] [PDF]

Home page
 J. Clin. Endocrinol. Metab.Home page
M. Nijenhuis, E. L. T. van den Akker, R. Zalm, A. A. M. Franken, A. P. Abbes, H. Engel, D. de Wied, and J. P. H. Burbach
Familial Neurohypophysial Diabetes Insipidus in a Large Dutch Kindred: Effect of the Onset of Diabetes on Growth in Children and Cell Biological Defects of the Mutant Vasopressin Prohormone
J. Clin. Endocrinol. Metab., July 1, 2001; 86(7): 3410 - 3420.
[Abstract] [Full Text] [PDF]


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