Abstract
Congenital nephrogenic diabetes insipidus (CNDI) is a rare inherited disease characterized by renal tubular unresponsiveness to the antidiuretic effect of arginine-vasopressin due to the mutations of two molecules, the vasopressin V2 receptor (AVPR2) and the aquasporin-2 water channel. We report a novel AVPR2 mutation in a Turkish 18 month-old boy with skeletal anomalies.
MeSH terms
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Chromosomes, Human, X / genetics
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DNA Mutational Analysis
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Diabetes Insipidus, Nephrogenic / congenital
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Diabetes Insipidus, Nephrogenic / diagnosis
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Diabetes Insipidus, Nephrogenic / genetics*
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Female
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Genes, Recessive
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Heterozygote
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Humans
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Infant
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Male
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Mothers
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Pedigree
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Radiography
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Receptors, Vasopressin / genetics*
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Scoliosis / congenital
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Scoliosis / diagnostic imaging
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Scoliosis / genetics