Genetic forms of neurohypophyseal diabetes insipidus
J Rutishauser, M Spiess, P Kopp - Best practice & research Clinical …, 2016 - Elsevier
Neurohypophyseal diabetes insipidus is characterized by polyuria and polydipsia owing to
partial or complete deficiency of the antidiuretic hormone, arginine vasopressin (AVP).
Although in most patients non-hereditary causes underlie the disorder, genetic forms have
long been recognized and studied both in vivo and in vitro. In most affected families, the
disease is transmitted in an autosomal dominant manner, whereas autosomal recessive
forms are much less frequent. Both phenotypes can be caused by mutations in the …
partial or complete deficiency of the antidiuretic hormone, arginine vasopressin (AVP).
Although in most patients non-hereditary causes underlie the disorder, genetic forms have
long been recognized and studied both in vivo and in vitro. In most affected families, the
disease is transmitted in an autosomal dominant manner, whereas autosomal recessive
forms are much less frequent. Both phenotypes can be caused by mutations in the …