Document Detail


Congenital nephrogenic diabetes insipidus: about a case report.
MedLine Citation:
PMID:  23587596     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
Congenital nephrogenic diabetes insipidus is a rare, hereditary in nature, characterized by an inability of the kidney to concentrate urine, secondary to the manifold resistance to the action of vasopressin. X-linked forms of transmission (90%) are expressed in boys, from the neonatal period in general, by polyuria and polydipsia. Symptomatology in transmissive girls is variable but can sometimes be quite marked. These forms are secondary to mutations in the gene encoding the vasopressin V2 receptor, located at position Xq28, responsible for a loss of function of this receptor. Some of these mutations may cause a partial phenotype, less severe. Forms of autosomal, recessive or dominant are more rare (10%). Treatment is symptomatic, sometimes difficult in infants. It aims to avoid episodes of dehydration. It is based on a conventional diet hypo-osmotic and administration of hydrochlorothiazide and indomethacin. We report here the case of a child with congenital nephrogenic diabetes insipidus hospitalized at Children's Hospital of Rabat and throughout this case we review the pathophysiology and clinical and biological characteristics of the disease and including importance of contribution of clinical biochemistry laboratory in the diagnosis and monitoring of this disease.
Authors:
Hicham Esselmani; Asmaa Yassine; Mounya Bouabdellah; Laila Benchekroun; Najat Handor; Sanae Elalami; Layachi Chabraoui
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Publication Detail:
Type:  JOURNAL ARTICLE    
Journal Detail:
Title:  Annales de biologie clinique     Volume:  71     ISSN:  1950-6112     ISO Abbreviation:  Ann. Biol. Clin. (Paris)     Publication Date:  2013 Apr 
Date Detail:
Created Date:  2013-4-16     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  2984690R     Medline TA:  Ann Biol Clin (Paris)     Country:  -    
Other Details:
Languages:  ENG     Pagination:  241-245     Citation Subset:  -    
Affiliation:
Laboratoire central de biochimie, Hôpital Ibn Sina, Rabat, Maroc.
Vernacular Title:
Diabète insipide néphrogénique congénital : à propos d'une observation<!--<RunningTitle>Diabète insipide néphrogénique congénital</RunningTitle>-->
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