Arginine vasopressin deficiency (previously called neurohypophyseal diabetes insipidus) is a disorder of water balance. The body normally balances fluid intake by releasing fluid in urine. However, people with arginine vasopressin deficiency produce an excessive amount of urine (polyuria), which depletes the amount of water in the body. This water loss also leads to excessive thirst (polydipsia).

The familial form of arginine vasopressin deficiency is caused by variants (also called mutations) in the AVP gene. This gene provides instructions for making a hormone called arginine vasopressin (AVP), which is sometimes also called antidiuretic hormone (ADH). This hormone, which is produced and stored in the brain, helps control the body's water balance.

Arginine vasopressin deficiency occurs in approximately 1 in 25,000 individuals. The acquired form is much more common than the familial form.

Familial arginine vasopressin deficiency is almost always inherited in an autosomal dominant pattern, which means that one copy of the altered AVP gene in each cell is sufficient to cause the disorder.

Published Date: July 19, 2024
Published By: National Institutes of Health