[Nephrogenic diabetes insipidus associated with mutations of vasopressin V2 receptors and aquaporin-2].

Abstract excerpt

Nephrogenic diabetes insipidus has two types of X-linked and autosomal recessive inheritance. The former is the mutations of arginine vasopressin (AVP) V2 receptors that have had 155 mutations in 239 families in the literature. The latter is the mutations of aquaporin-2(AQP-2) water channel, which have had 11 mutations. The functional analysis of V2 receptor mutations has resulted in two abnormalities. The...

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