A loss of ADH disrupts the body's water balance, leading to excessive urine production and the other features of the disorder.
In 30 to 50 percent of all cases of neurohypophysis diabetes insipidus, the cause of the disorder is unknown. Studies suggest that some of these cases may have an autoimmune basis. Autoimmune disorders occur when the immune system malfunctions and attacks the body's own tissues and organs. For unknown reasons, in some people with neurohypophysis diabetes insipidus the immune system appears to damage the brain cells that normally produce ADH.
Familial neurohypophyseal diabetes insipidus is almost always inherited in an autosomal dominant pattern, which means one copy of the altered AVP gene in each cell is sufficient to cause the disorder. In a few affected families, the condition has had an autosomal recessive pattern of inheritance. Autosomal recessive inheritance means that both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the