Article
Functional characterization of vasopressin receptor 2 mutations causing partial and complete congenital nephrogenic diabetes insipidus in Thai families.
Hormone research in paediatrics - 1 Jan 2010
Sahakitrungruang Taninee, Tee Meng Kian, Rattanachartnarong Natthakorn, Shotelersuk Vorasuk, Suphapeetiporn Kanya, Miller Walter L
Abstract excerpt
BACKGROUND: AVPR2 mutations cause most cases of nephrogenic diabetes insipidus (NDI); 211 AVPR2 mutations have been described, but only 7 are described causing partial NDI. METHODS: Two unrelated Thai boys had polyuria and polydipsia in infancy but had normal electrolytes and serum osmolality at 2 years of age. Patient 1 could not concentrate his urine in response to water deprivation or 1-desamino-8-D-arginine...
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