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Latest & greatest articles for Nephrogenic Diabetes Insipidus
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AVPR2 variants and mutations in nephrogenicdiabetesinsipidus: review and missense mutation significance. Almost 90% of nephrogenicdiabetesinsipidus (NDI) is due to mutations in the arginine-vasopressin receptor 2 gene (AVPR2). We retrospectively examined all the published mutations/variants in AVPR2. We planned to perform a comprehensive review of all the AVPR2 mutations/variants and to test whether any amino acid change causing a missense mutation is significantly more or less common than
Causes of reversible nephrogenicdiabetesinsipidus: a systematic review. In nephrogenicdiabetesinsipidus (NDI), the kidney is unable to produce concentrated urine because of the insensitivity of the distal nephron to antidiuretic hormone (arginine vasopressin). In settings in which fluid intake cannot be maintained, this may result in severe dehydration and electrolyte imbalances. The risk for conversion of reversible to irreversible NDI seems to be a potential complication. This review
Desmopressin for nocturnal enuresis in nephrogenicdiabetesinsipidus. We have investigated two unrelated families, in which two children had inherited primary nocturnal enuresis, and nephrogenicdiabetesinsipidus caused by new mutations in the aquaporin-2 gene (AQP2). The mutant AQP2 proteins were inactive, suggesting that administration of desmopressin could not concentrate the urine in these patients. However, treatment with desmopressin resolved primary nocturnal enuresis completely