Document Detail


Nephrogenic diabetes insipidus.
MedLine Citation:
PMID:  9831428     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
In nephrogenic diabetes insipidus, the kidney is unable to concentrate urine despite normal or elevated concentrations of the antidiuretic hormone arginine vasopressin (AVP). In congenital nephrogenic diabetes insipidus (NDI), the obvious clinical manifestations of the disease, that is polyuria and polydipsia, are present at birth and need to be immediately recognized to avoid severe episodes of dehydration. Most (>90%) congenital NDI patients have mutations in the AVPR2 gene, the Xq28 gene coding for the vasopressin V2 (antidiuretic) receptor. In <10% of the families studied, congenital NDI has an autosomal recessive inheritance and mutations of the aquaporin-2 gene (AQP2), ie, the vasopressin-sensitive water channel, have been identified. When studied in vitro, most AVPR2 mutations lead to receptors that are trapped intracellularly and are unable to reach the plasma membrane. A minority of the mutant receptors reach the cell surface but are unable to bind AVP or to trigger an intracellular cyclic adenosine-monophosphate (cAMP) signal. Similarly AQP2 mutant proteins are trapped intracellularly and cannot be expressed at the luminal membrane. The acquired form of NDI is much more common than the congenital form, is almost always less severe, and is associated with downregulation of AQP2. The advances described here are examples of "bedside physiology" and provide diagnostic tools for physicians caring for these patients.
Authors:
D G Bichet
Related Documents :
20838928 - Population and computational analysis of the mgea6 p521a variation as a risk factor for...
19087158 - Autosomal recessive hereditary spastic paraplegia with thin corpus callosum: a novel mu...
8982288 - "benign erythrocytosis" and other familial and congenital polycythemias.
11810278 - Phenotypic variability at the tgf-beta1 locus in camurati-engelmann disease.
17482888 - The antioxidant role of coenzyme q.
20738628 - First occurrence of the lined seahorse hippocampus erectus in the eastern atlantic ocean.
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Review    
Journal Detail:
Title:  The American journal of medicine     Volume:  105     ISSN:  0002-9343     ISO Abbreviation:  Am. J. Med.     Publication Date:  1998 Nov 
Date Detail:
Created Date:  1998-12-22     Completed Date:  1998-12-22     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  0267200     Medline TA:  Am J Med     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  431-42     Citation Subset:  AIM; IM    
Affiliation:
Centre de recherche, Hôpital du Sacré-Coeur de Montréal and Department of Medicine, Université de Montréal, Québec, Canada.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:
Aquaporins / genetics
Arginine Vasopressin / genetics
Diabetes Insipidus, Nephrogenic / genetics*,  metabolism
GTP-Binding Proteins / metabolism
Humans
Mutation*
Oxytocin / metabolism
Protein Binding
Protein Structure, Tertiary
Receptors, Vasopressin / genetics*,  metabolism
Vasopressins / metabolism
Chemical
Reg. No./Substance:
0/Aquaporins; 0/Receptors, Vasopressin; 11000-17-2/Vasopressins; 113-79-1/Arginine Vasopressin; 50-56-6/Oxytocin; EC 3.6.1.-/GTP-Binding Proteins

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


Previous Document:  Helicobacter pylori: rational management options.
Next Document:  A dual mechanism for sound pitch perception: new evidence from brain electrophysiology.