Nephrogenic Syndrome of Inappropriate Antidiuresis
Mutations in the vasopressin V2 receptor gene are responsible for two human tubular disorders: X-linked congenital nephrogenic diabetes insipidus, due to a loss of function of the mutant V2 receptor, and the nephrogenic syndrome of inappropriate antidiuresis, due to a constitutive activation of the...
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| Format: | Article |
| Language: | English |
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Wiley
2012-01-01
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| Series: | International Journal of Pediatrics |
| Online Access: | http://dx.doi.org/10.1155/2012/937175 |
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| author | D. Morin J. Tenenbaum B. Ranchin T. Durroux |
| author_facet | D. Morin J. Tenenbaum B. Ranchin T. Durroux |
| author_sort | D. Morin |
| collection | DOAJ |
| description | Mutations in the vasopressin V2 receptor gene are responsible for two human tubular disorders: X-linked congenital nephrogenic diabetes insipidus, due to a loss of function of the mutant V2 receptor, and the nephrogenic syndrome of inappropriate antidiuresis, due to a constitutive activation of the mutant V2 receptor. This latter recently described disease may be diagnosed from infancy to adulthood, as some carriers remain asymptomatic for many years. Symptomatic children, however, typically present with clinical and biological features suggesting inappropriate antidiuretic hormone secretion with severe hyponatremia and high urine osmolality, but a low plasma arginine vasopressin level. To date, only two missense mutations in the vasopressin V2 receptor gene have been found in the reported patients. The pathophysiology of the disease requires fuller elucidation as the phenotypic variability observed in patients bearing the same mutations remains unexplained. The treatment is mainly preventive with fluid restriction, but urea may also be proposed. |
| format | Article |
| id | doaj-art-f0f100e4831b44f68a9bead82d8ac47f |
| institution | Kabale University |
| issn | 1687-9740 1687-9759 |
| language | English |
| publishDate | 2012-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | International Journal of Pediatrics |
| spelling | doaj-art-f0f100e4831b44f68a9bead82d8ac47f2025-02-03T05:50:19ZengWileyInternational Journal of Pediatrics1687-97401687-97592012-01-01201210.1155/2012/937175937175Nephrogenic Syndrome of Inappropriate AntidiuresisD. Morin0J. Tenenbaum1B. Ranchin2T. Durroux3Centre de Référence des Maladies Rénales Rares du Sud-Ouest, Néphrologie Pédiatrique, CHU Montpellier, Université Montpellier 1, 34295 Montpellier, FranceCentre de Référence des Maladies Rénales Rares du Sud-Ouest, Néphrologie Pédiatrique, CHU Montpellier, Université Montpellier 1, 34295 Montpellier, FranceService de Néphrologie Pédiatrique, Centre de Référence des Maladies Rénales Rares, Hôpital Femme-Mère-Enfant, Hospices Civils de Lyon, UFR de Médecine Lyon-Est et Inserm U499, Université Claude Bernard Lyon I, 69500 Lyon, FranceCNRS, UMR 5203, Inserm U661, IGF, Université Montpellier 1-2, 34094 Montpellier, FranceMutations in the vasopressin V2 receptor gene are responsible for two human tubular disorders: X-linked congenital nephrogenic diabetes insipidus, due to a loss of function of the mutant V2 receptor, and the nephrogenic syndrome of inappropriate antidiuresis, due to a constitutive activation of the mutant V2 receptor. This latter recently described disease may be diagnosed from infancy to adulthood, as some carriers remain asymptomatic for many years. Symptomatic children, however, typically present with clinical and biological features suggesting inappropriate antidiuretic hormone secretion with severe hyponatremia and high urine osmolality, but a low plasma arginine vasopressin level. To date, only two missense mutations in the vasopressin V2 receptor gene have been found in the reported patients. The pathophysiology of the disease requires fuller elucidation as the phenotypic variability observed in patients bearing the same mutations remains unexplained. The treatment is mainly preventive with fluid restriction, but urea may also be proposed.http://dx.doi.org/10.1155/2012/937175 |
| spellingShingle | D. Morin J. Tenenbaum B. Ranchin T. Durroux Nephrogenic Syndrome of Inappropriate Antidiuresis International Journal of Pediatrics |
| title | Nephrogenic Syndrome of Inappropriate Antidiuresis |
| title_full | Nephrogenic Syndrome of Inappropriate Antidiuresis |
| title_fullStr | Nephrogenic Syndrome of Inappropriate Antidiuresis |
| title_full_unstemmed | Nephrogenic Syndrome of Inappropriate Antidiuresis |
| title_short | Nephrogenic Syndrome of Inappropriate Antidiuresis |
| title_sort | nephrogenic syndrome of inappropriate antidiuresis |
| url | http://dx.doi.org/10.1155/2012/937175 |
| work_keys_str_mv | AT dmorin nephrogenicsyndromeofinappropriateantidiuresis AT jtenenbaum nephrogenicsyndromeofinappropriateantidiuresis AT branchin nephrogenicsyndromeofinappropriateantidiuresis AT tdurroux nephrogenicsyndromeofinappropriateantidiuresis |