Diabetes Insipidus, Arginine Vasopressin Neurophysin II: AVP Sequencing

Diagnostic Use

Familial neurohypophyseal diabetes insipisus (FNDI) is an uncommon, inherited disease with a uniform clinical phenotype characterised by persistent thirst, polydipsia, polyuria and a deficiency of the antidiuretic hormone, arginine vasopressin (AVP). The disease is transmitted in an autosomal dominant mode and appears to be largely, if not completely, penetrant. FNDI has been associated with degeneration of the magnocellular, neurohypophyseal neurons that normally synthesis AVP. Studies indicate that AVP secretion is normal for the first few days of life but then degenerates rapidly and may continue to decline slowly for a decade or more. Mutations appear to direct the production of a pre-prohormone that cannot be folded, processed or degraded properly, which gradually accumulates and eventually destroys vasopressinergic neurons.


Genetics - Molecular Pathology

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