Dominant-negative diabetes insipidus and other endocrinopathies

Dominant-negative diabetes insipidus and other endocrinopathies.

Familial neurohypophyseal diabetes insipidus (FNDI) in humans is an autosomal dominant disorder caused by a variety of mutations in the arginine vasopressin (AVP) precursor. A new report demonstrates how heterozygosity for an AVP mutation causes FNDI (see the related article beginning on page 1697). Using an AVP knock-in mutation in mice, the study shows that FNDI is caused by retention of AVP ...

Expression of a dominant negative PKA mutation in the kidney elicits a diabetes insipidus phenotype.

PKA plays a critical role in water excretion through regulation of the production and action of the antidiuretic hormone arginine vasopressin (AVP). The AVP prohormone is produced in the hypothalamus, where its transcription is regulated by cAMP. Once released into the circulation, AVP stimulates antidiuresis through activation of vasopressin 2 receptors in renal principal cells. Vasopressin 2 ...

Diabetes Insipidus and Trauma (15 Cases Report)

SUMMARY In a survey during a period of 3 years (1363 -1366), we have studied 15 Patients with diabetes insipidus due to accidents, measless and surgery. Finally, after this period we find that permanent diabetes insipid us was clear in (2 head. injury, 2 patients with head measle, and two after surgery for craniopharyngioma). In eight rest patients diabetes insipid us was temporary and subside...

Diabetes Insipidus

679 W E ARE PRESENTING the case histories of two children with diabetes insipidus, of particular interest because of the diversity of manifestations, the variance in etiology and the complexity of management. One patient was observed for a period of 3 years, with onset of disease at age 10 years; another was observed for a period of 8 years, with the onset of tile primary disease at 2 years and...

Diabetes insipidus.