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A Novel Missense Mutation in the AVPR2 Gene of a Japanese Infant with Nephrogenic Diabetes Insipidus
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Tomozumi Takatani
Published/Copyright:
September 17, 2010
ABSTRACT
We described the case of an infant with nephrogenic diabetes insipidus (NDI) with a novel mutation in the arginine vasopressin receptor 2 (AVPR2) gene. A 1-month-old infant showed failure to thrive and hypernatremia. The water deprivation test revealed elevated serum osmolality and low urine osmolality. The patient showed a slight but not significant response to intramuscular injection of arginine vasopressin (AVP). DNA analysis revealed a novel missense mutation involving substitution of proline for leucine at position 173 (P173L), which was reported to be important for stabilizing the hydrogen bond between tyrosine at position 205 and leucine at position 169. This mutation was not detected in 116 ethnic-matched controls. This case, with clinical data including the water deprivation test and P173L mutation, will facilitate understanding the structure and function of the AVPR2.
KEY WORDS: Congenital nephrogenic diabetes insipidus; Vasopressin; V2 receptor gene; Missense mutation; Water deprivation test
Published Online: 2010-09-17
Published in Print: 2010-April
© Freund Publishing House Ltd.
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Keywords for this article
Congenital nephrogenic diabetes insipidus;
Vasopressin;
V2 receptor gene;
Missense mutation;
Water deprivation test
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- Relationship between Metabolic Parameters and Thyroid Hormones and the Level of Gastric Peptides in Children with Autoimmune Thyroid Diseases
- Stimulated Growth Hormone Concentrations in Obese Pediatric Patients with Mild and Severe Insulin Resistance: A Pilot Study
- Amiodarone-induced Thyrotoxicosis in Children and Adolescents is a Possible Outcome in Patients with Low Iodine Intake
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