Central Diabetes Insipidus Associated with a Missense Mutation in the Arginine Vasopressin Gene that Replaces Ala at the Carboxyterminus of the Signal Peptide with Thr

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Author(s)

Abstract

We report an 18-year-old male with a history of polyuria, polydipsia, and thirst since childhood. In a hypertonic saline infusion test, the patient's plasma vasopressin rose only to 0.28 pg/ml. In a water deprivation test, his urinary osmolality rose only to 189 mosmol/kg and then rose to 538 mosmol/kg by vasopressin administration. A Tl-weighted magnetic resonance imaging (MRI) scan revealed a loss of the posterior pituitary bright spot. Sequencing of the vasopressin gene showed a heterozygous point mutation that replaced Ala at the carboxyterminus of the signal peptide with Thr. His father also had similar history, and we therefore diagnosed his illness as familial central diabetes insipidus.<br>(Internal Medicine 37: 683-686, 1998)

Journal

  • Internal Medicine

    Internal Medicine 37(8), 683-686, 1998-08-01

    The Japanese Society of Internal Medicine

References:  18

Cited by:  1

Codes

  • NII Article ID (NAID)
    10009507612
  • NII NACSIS-CAT ID (NCID)
    AA10827774
  • Text Lang
    ENG
  • Article Type
    Journal Article
  • ISSN
    09182918
  • NDL Article ID
    4555854
  • NDL Source Classification
    ZS21(科学技術--医学--内科学)
  • NDL Call No.
    Z53-M398
  • Data Source
    CJP  CJPref  NDL  J-STAGE 
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