Novel mutant vasopressin-neurophysin II gene associated with familial neurohypophyseal diabetes insipidus

Masashi Miyakoshi, Kyuzi Kamoi, Takashi Murase, Yoshihisa Sugimura, Yutaka Oiso

Research output: Contribution to journalArticle

11 Citations (Scopus)

Abstract

We describe a novel missense mutant of arginine vasopressin (AVP)-dependent neurohypophyseal diabetes insipidus in an autosomal dominant family. A 54-year-old woman was admitted to our hospital because of thyroidectomy for thyroid cancer. After thyroidectomy she was found to have hypernatremia and polyuria and polydipsia both of which had been present from childhood. She had no obstructive hydronephrosis. Her father, father's younger sister and her third son also had polyuria and polydipsia. Basal plasma AVP concentration at normal plasma osmolality was normal but did not respond to increased plasma osmolality despite hyperosmolality during infusion of hypertonic saline infusion, indicating that plasma AVP secretion was impaired. Sodium concentration in urine and urine osmolality were low and increased after nasal administration of DDAVP. There was a diminished but bright signal of pituitary posterior gland on magnetic resonance T1 weighted image. Molecular genetic analysis demonstrated that the patient and her son had a single heterozygous missense mutation (G→A) at nucleotide 1829 in 1 AVP allele, yielding an abnormal AVP precursor with lacking Glu-47 in its neurophysin II moiety. The abnormal AVP precursor may be related to the impaired AVP secretion.

Original languageEnglish
Pages (from-to)551-556
Number of pages6
JournalEndocrine Journal
Volume51
Issue number6
DOIs
Publication statusPublished - 01-12-2004

Fingerprint

Neurogenic Diabetes Insipidus
Neurophysins
Arginine Vasopressin
Vasopressins
Genes
Osmolar Concentration
Polydipsia
Polyuria
Thyroidectomy
Nuclear Family
Fathers
Urine
Hypernatremia
Posterior Pituitary Gland
Intranasal Administration
Deamino Arginine Vasopressin
Hydronephrosis
Missense Mutation
Thyroid Neoplasms
Siblings

All Science Journal Classification (ASJC) codes

  • Endocrinology, Diabetes and Metabolism
  • Endocrinology

Cite this

Miyakoshi, Masashi ; Kamoi, Kyuzi ; Murase, Takashi ; Sugimura, Yoshihisa ; Oiso, Yutaka. / Novel mutant vasopressin-neurophysin II gene associated with familial neurohypophyseal diabetes insipidus. In: Endocrine Journal. 2004 ; Vol. 51, No. 6. pp. 551-556.
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Novel mutant vasopressin-neurophysin II gene associated with familial neurohypophyseal diabetes insipidus. / Miyakoshi, Masashi; Kamoi, Kyuzi; Murase, Takashi; Sugimura, Yoshihisa; Oiso, Yutaka.

In: Endocrine Journal, Vol. 51, No. 6, 01.12.2004, p. 551-556.

Research output: Contribution to journalArticle

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