Familial neurohypophyseal diabetes insipidus due to a novel mutation in the arginine vasopressin-neurophysin II gene

M. De Fost, A. S.P. Van Trotsenburg, H. M. Van Santen, E. Endert, C. Van Den Elzen, E. J. Kamsteeg, D. F. Swaab, E. Fliers

Onderzoeksoutput: Bijdrage aan tijdschriftArtikelpeer review

13 Citaten (Scopus)

Samenvatting

Background: Familial neurohypophyseal (central) diabetes insipidus (DI) is caused by mutations in the arginine vasopressin-neurophysin II (AVP-NPII) gene. The majority of cases is inherited in an autosomal dominant way. In this study, we present the clinical features of a mother and her son with autosomal dominant neurohypophyseal DI caused by a novel mutation. Case: A thirty-four-year-old woman and her three-year-old son were evaluated because of polyuria and polydipsia since the age of 1.5 years onwards. Both patients were subjected to a water deprivation test confirming the diagnosis of central DI. Magnetic resonance imaging of the brain of the mother showed a hypothalamus without apparent abnormalities and a relatively small neurohypophysis without a hyperintense signal. Mutation analysis showed a c.322G>T (p.?/p.Glu108X) in Exon 2 of the AVP-NPII gene in both mother and son. Discussion: This study reports neurohypophyseal DI in a mother and her son due to a novel mutation in Exon 2 of the AVP-NPII gene. Clinical and pathophysiological aspects of this disease are shortly reviewed and discussed.

Originele taal-2Engels
Pagina's (van-tot)161-165
Aantal pagina's5
TijdschriftEuropean Journal of Endocrinology
Volume165
Nummer van het tijdschrift1
DOI's
StatusGepubliceerd - jul. 2011
Extern gepubliceerdJa

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