Can Med Assoc J. 1984 Nov 15;131(10):1237-41.

Hereditary central diabetes insipidus: plasma levels of antidiuretic hormone in a family with a possible osmoreceptor defect.

Abstract

A large Canadian kindred of Irish extraction extending from Quebec to British Columbia with autosomal dominant diabetes insipidus responsive to exogenous antidiuretic hormone (ADH) is described. Out of 121 individuals 34 have been identified as affected in seven generations. The disorder is characterized by variability in age at onset and in severity, and by apparently spontaneous abatement in old age. The affected subjects do not appear to manifest hypertension or its sequelae. In three individuals tested the plasma ADH level was very low in spite of adequate osmotic stimulation. However, the level rose in two of them when they were given furosemide, which suggests an osmoreceptor defect and a normal ADH response to volume change.

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PMCID:: PMC1483705

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