Clinical phenotype of nephrogenic diabetes insipidus in females heterozygous for a vasopressin type 2 receptor mutation
| Autor: | A.F. van Lieburg, Marjolijn J. L. Ligtenberg, F. Schoute, Marian A. J. Verdijk, Leo A. H. Monnens, F. Waldhauser, N. Knoers, M. Dobner, B.A. van Oost |
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| Jazyk: | angličtina |
| Rok vydání: | 1995 |
| Předmět: |
Adult
Male Receptors Vasopressin Vasopressin medicine.medical_specialty Adolescent Genetic Linkage Molecular Sequence Data Diabetes Insipidus Nephrogenic Gene mutation Biology medicine.disease_cause Loss of heterozygosity Internal medicine Arginine vasopressin receptor 2 Genetics medicine Humans Nephrogenic diabetes insipidus. Characterisation of the genmutation in vitro and in vivo - mechanism of action of DDAVP Child GeneralLiterature_REFERENCE(e.g. dictionaries encyclopedias glossaries) Genetics (clinical) Mutation Base Sequence Elucidation of the molecular defect responsible for congenital nephrogenic diabetes insipidus (NDI) Infant Newborn Chromosome Mapping Infant Nephrogenic diabetes insipidus medicine.disease Pedigree Endocrinology verdere karakterisering van de genmutatie met in vitro en in vivo expressie - de werking van DDAVP [Nephrogene diabetes insipidus] Aquaporin 2 Child Preschool Diabetes insipidus Opheldering van het moleculaire defect dat verantwoordelijk is voor congenitale nefrogene diabetes insipidus (NDI) Female |
| Zdroj: | Human Genetics, 96, 1, pp. 70-78 Human Genetics, 96, 70-78 Human Genetics, 96, pp. 70-78 |
| ISSN: | 0340-6717 |
| Popis: | Nephrogenic diabetes insipidus (NDI) usually shows an X-linked recessive mode of inheritance caused by mutations in the vasopressin type 2 receptor gene (AVPR2). In the present study, three NDI families are described in which females show clinical features resembling the phenotype in males. Maximal urine osmolality in three female patients did not exceed 200 mosmol/kg and the absence of extra-renal responses to 1-desamino-8-D-arginine vasopressin was demonstrated in two of them. All affected females and two asymptomatic female family members were shown to be heterozygous for an AVPR2 mutation. Skewed X-inactivation is the most likely explanation for the clinical manifestation of NDI in female carriers of an AVPR2 mutation. It is concluded that, in female NDI patients, the possibility of heterozygosity for an AVPR2 gene mutation has to be considered in addition to homozygosity for mutations in the aquaporin 2 gene. |
| Databáze: | OpenAIRE |
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