Clinical Trial: Study of the Pathogenesis and Pathophysiology of Familial Neurohypophyseal Diabetes Insipidus

Study Status: Completed
Recruit Status: Completed
Study Type: Observational

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Official Title:

Brief Summary:

OBJECTIVES: I. Determine whether diverse mutations of the vasopressin-neurophysin II (AVP-NPII) gene cause autosomal dominant familial neurohypophyseal diabetes insipidus by directing the production of an abnormal preprohormone.

II. Determine whether the AVP-NPII gene-directed preprohormone accumulates and destroys magnocellular neurons because it cannot be folded and processed efficiently.