title: [Congenital nephrogenic diabetes insipidus: about a case report].
abstract: 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.affiliation: Laboratoire central de biochimie, Hôpital Ibn Sina, Rabat, Morocco.
authors.forename: Hicham
authors.initials: H
authors.lastname: Esselmani
authors.forename: Asmaa
authors.initials: A
authors.lastname: Yassine
authors.forename: Mounya
authors.initials: M
authors.lastname: Bouabdellah
authors.forename: Laila
authors.initials: L
authors.lastname: Benchekroun
authors.forename: Najat
authors.initials: N
authors.lastname: Handor
authors.forename: Sanae
authors.initials: S
authors.lastname: Elalami
authors.forename: Layachi
authors.initials: L
authors.lastname: Chabraoui
mesh_terms: D002648:Child; D019411:Clinical Laboratory Techniques / Q000379:methods; D018500:Diabetes Insipidus, Nephrogenic / Q000097:blood / Q000150:complications / Q000175:diagnosis* / Q000652:urine; D006801:Humans; D008297:Male; D008991:Monitoring, Physiologic / Q000379:methods; D059606:Polydipsia / Q000175:diagnosis / Q000209:etiology; D011141:Polyuria / Q000175:diagnosis / Q000209:etiology
keywords: children; congenital; nephrogenic diabetes insipidus; osmolarity; receiver V2; vasopressin