Overview
Hereditary arginine vasopressin deficiency — also called central diabetes insipidus, familial neurohypophyseal diabetes insipidus, or hereditary central diabetes insipidus — is a rare genetic condition that affects how the body manages water. Normally, a hormone called arginine vasopressin (AVP), also known as antidiuretic hormone (ADH), is made in the brain and tells the kidneys to hold onto water. In this condition, the body cannot make enough of this hormone, so the kidneys release far too much water as urine. This leads to the two most noticeable symptoms: passing very large amounts of urine (polyuria) and feeling extremely thirsty all the time (polydipsia). Without enough AVP, the body struggles to stay properly hydrated even when a person drinks a lot of fluids. If fluid intake cannot keep up with fluid loss, dangerous dehydration and high sodium levels in the blood can occur. The condition is caused by changes (mutations) in the AVP gene, which provides instructions for making the vasopressin hormone. The good news is that this condition is very treatable. A synthetic version of the hormone, called desmopressin (DDAVP), is available as a nasal spray, tablet, or injection and works very well for most people. With proper treatment and monitoring, most people with this condition can live a normal, healthy life. Regular follow-up with a specialist is important to keep fluid balance and sodium levels in a safe range.
Also known as:
Key symptoms:
Passing very large amounts of urine, often many liters per dayExtreme thirst that is hard to satisfyWaking up multiple times at night to urinateBed-wetting in childrenPreference for cold or iced waterDehydration if not drinking enough fluidsHeadacheFatigue and tirednessDry mouthConfusion or irritability if sodium levels become too highPoor weight gain or growth problems in infants and young children
Clinical phenotype terms (9)— hover any for plain English
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Hereditary arginine vasopressin deficiency.
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Specialists
View all specialists →No specialists are currently listed for Hereditary arginine vasopressin deficiency.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Hereditary arginine vasopressin deficiency.
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Questions for your doctor
Bring these to your next appointment
- Q1.What is the best form of desmopressin for my age and lifestyle — nasal spray, tablet, or injection?,How do I know if my dose of desmopressin is too high or too low?,How often do I need blood and urine tests to check my sodium and kidney function?,What should I do if I get sick and cannot take my medication or drink fluids normally?,Should other family members be tested for this condition?,Are there any activities or situations I should avoid or plan carefully for?,What are the warning signs that I need to go to the emergency room?
Common questions about Hereditary arginine vasopressin deficiency
What is Hereditary arginine vasopressin deficiency?
Hereditary arginine vasopressin deficiency — also called central diabetes insipidus, familial neurohypophyseal diabetes insipidus, or hereditary central diabetes insipidus — is a rare genetic condition that affects how the body manages water. Normally, a hormone called arginine vasopressin (AVP), also known as antidiuretic hormone (ADH), is made in the brain and tells the kidneys to hold onto water. In this condition, the body cannot make enough of this hormone, so the kidneys release far too much water as urine. This leads to the two most noticeable symptoms: passing very large amounts of uri
How is Hereditary arginine vasopressin deficiency inherited?
Hereditary arginine vasopressin deficiency follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.