Familial forms of diabetes insipidus: clinical and molecular characteristics.

Details

Serval ID
serval:BIB_B90C65A0EA3B
Type
Article: article from journal or magazin.
Collection
Publications
Title
Familial forms of diabetes insipidus: clinical and molecular characteristics.
Journal
Nature reviews. Endocrinology
Author(s)
Babey M., Kopp P. (co-last), Robertson G.L.
ISSN
1759-5037 (Electronic)
ISSN-L
1759-5029
Publication state
Published
Issued date
05/07/2011
Peer-reviewed
Oui
Volume
7
Number
12
Pages
701-714
Language
english
Notes
Publication types: Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't ; Review
Publication Status: epublish
Abstract
Over the past two decades, the genetic and molecular basis of familial forms of diabetes insipidus has been elucidated. Diabetes insipidus is a clinical syndrome characterized by the excretion of abnormally large volumes of diluted urine (polyuria) and increased fluid intake (polydipsia). The most common type of diabetes insipidus is caused by lack of the antidiuretic hormone arginine vasopressin (vasopressin), which is produced in the hypothalamus and secreted by the neurohypophysis. This type of diabetes insipidus is referred to here as neurohypophyseal diabetes insipidus. The syndrome can also result from resistance to the antidiuretic effects of vasopressin on the kidney, either at the level of the vasopressin 2 receptor or the aquaporin 2 water channel (which mediates the re-absorption of water from urine), and is referred to as renal or nephrogenic diabetes insipidus. Differentiation between these two types of diabetes insipidus and primary polydipsia can be difficult owing to the existence of partial as well as complete forms of vasopressin deficiency or resistance. Seven different familial forms of diabetes insipidus are known to exist. The clinical presentation, genetic basis and cellular mechanisms responsible for them vary considerably. This information has led to improved methods of differential diagnosis and could provide the basis of new forms of therapy.
Keywords
Animals, Aquaporin 2/genetics, Arginine Vasopressin/genetics, Deamino Arginine Vasopressin/therapeutic use, Diabetes Insipidus/diagnosis, Diabetes Insipidus/drug therapy, Diabetes Insipidus/genetics, Diabetes Insipidus, Nephrogenic/diagnosis, Diabetes Insipidus, Neurogenic/diagnosis, Diagnosis, Differential, Female, Humans, Male, Mutation, Phenotype, Polydipsia, Polyuria, Receptors, Vasopressin/genetics, Vasopressins/deficiency, Vasopressins/physiology
Pubmed
Web of science
Create date
28/12/2020 15:43
Last modification date
29/12/2020 6:26
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