Genetics of Diabetes Insipidus

Abstract

Diabetes insipidus is a disease characterized by polyuria and polydipsia due to inadequate release of arginine vasopressin from the posterior pituitary gland (neurohypophyseal diabetes insipidus) or due to arginine vasopressin insensitivity by the renal distal tubule, leading to a deficiency in tubular water reabsorption (nephrogenic diabetes insipidus). This article reviews the genetics of diabetes insipidus in the context of its diagnosis, clinical presentation, and therapy.

Keywords: Aquaporin 2; Arginine vasopressin; Arginine vasopressin receptor type 2; Familial nephrogenic diabetes insipidus; Familial neurohypophyseal diabetes insipidus; Wolfram syndrome.