A Case of a Novel Mutant Vasopressin Receptor-Dependent Nephrogenic Diabetes Insipidus with Bilateral Non-Obstructive Hydronephrosis in a Middle Aged Man-Differentiation from Aquaporin-Dependent Nephrogenic Diabetes Insipidus by the Response of Factor VIII and von Willebrand Factor to 1-Deamino-8-D-Arginine Vasopressin Administration-

DOI Web Site PubMed 被引用文献2件 参考文献32件
  • MIYAKOSHI Masashi
    The Department of Internal Medicine, Division of Endocrine and Metabolism, Nagaoka Red Cross Hospital
  • KAMOI Kyuzi
    The Department of Internal Medicine, Division of Endocrine and Metabolism, Nagaoka Red Cross Hospital
  • UCHIDA Shinichi
    The Department of Homeostasis Medicine and Nephrology, Tokyo Medical and Dental University
  • SASAKI Sei
    The Department of Homeostasis Medicine and Nephrology, Tokyo Medical and Dental University

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タイトル別名
  • - Differentiation from Aquaporin-Dependent Nephrogenic Diabetes Insipidus by the Response of Factor VIII and von Willebrand Factor to 1-Deamino-8-D-Arginine Vasopressin Administration -

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We describe a case of a novel mutant vasopressin 2 receptor (V2R)-dependent nephrogenic diabetes insipidus (NDI) with bilateral non-obstructive hydronephrosis in a middle aged man. This could be distinguished from aquaporin 2 (AQP2)-dependent NDI by the response of factor VIII and von Willebrand factor (vWF) to 1-deamino-8-D-arginine vasopressin (DDAVP) administration. A 47-year-old man was admitted to hospital because of polyuria, which had been present from infancy and was suspected of causing non-obstructive hydronephrosis. His mother's father, the older brother of his mother and his second daughter also all had polyuria. Sodium concentration, osmolality and vasopressin in blood were high, while sodium concentration and osmolality in urine were low. There were no changes in urine osmolality, factor VIII and vWF in response to DDAVP infusion. Neither was heart rate, diastolic blood pressure nor facial flushing affected. These findings suggested this case was V2R-dependent NDI rather than AQP2-dependent NDI. Molecular genetic analysis demonstrated that the patient had a V2R missense mutation involving a substitution of cysteine for arginine at position 104 (R104C) located in the first extracellular loop of the V2R. It was also found that the patient's mother and his second daughter were heterozygous for this R104C mutation.<br>

収録刊行物

  • Endocrine Journal

    Endocrine Journal 50 (6), 809-814, 2003

    一般社団法人 日本内分泌学会

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