Arginine vasopressin deficiency

Arginine vasopressin deficiency (AVP-D), formerly known as central diabetes insipidus (CDI) or neurogenic diabetes insipidus, is a condition in which the posterior pituitary gland fails to produce or secrete adequate amounts of arginine vasopressin (also called antidiuretic hormone, ADH). This hormone normally acts on the kidneys to concentrate urine and maintain water balance. Without sufficient AVP, the kidneys are unable to properly reabsorb water, leading to the hallmark symptoms of excessive urination (polyuria) and excessive thirst (polydipsia). Patients may produce very large volumes of dilute urine, often exceeding 3 liters per day in adults and proportionally large volumes in children, which can lead to dehydration, hypernatremia (elevated blood sodium), and significant disruption of daily life including sleep disturbance due to nocturia. The causes of arginine vasopressin deficiency are diverse. It may be acquired due to damage to the hypothalamus or pituitary stalk from neurosurgery, traumatic brain injury, tumors (such as craniopharyngioma or germinoma), infiltrative diseases (such as Langerhans cell histiocytosis or sarcoidosis), autoimmune hypophysitis, or infections. In some cases, it is idiopathic, meaning no identifiable cause is found, though autoimmune mechanisms are suspected in many of these cases. Familial forms exist, most commonly inherited in an autosomal dominant pattern due to mutations in the AVP-neurophysin II gene (AVP gene on chromosome 20p13), though rare autosomal recessive and X-linked recessive forms have also been described. Congenital forms associated with midline brain defects (such as septo-optic dysplasia) or Wolfram syndrome may also occur. Diagnosis is established through water deprivation testing, measurement of serum and urine osmolality, and increasingly through measurement of copeptin (a stable surrogate marker for AVP). MRI of the brain is typically performed to evaluate the hypothalamic-pituitary region. Treatment is highly effective and centers on hormone replacement with desmopressin (DDAVP), a synthetic analogue of vasopressin, which can be administered intranasally, orally, or by injection. With appropriate desmopressin therapy and monitoring of fluid balance and serum sodium, most patients achieve excellent symptom control and maintain a normal quality of life. Patients require lifelong treatment and regular follow-up to adjust dosing and monitor for hyponatremia, a potential complication of desmopressin therapy.

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

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