 |
Rare Disease DiscussionsAuthor: Peter Ciszewski, CheckRare
News and clinical perspective including CME programs focused on rare diseases. CheckRare focuses on rare and neglected diseases. Language: en Genres: Health & Fitness, Medicine Contact email: Get it Feed URL: Get it iTunes ID: Get it |
Listen Now...
Arginine Vasopressin Deficiency (AVP-D) Overview (Christopher Romero, MD)
Wednesday, 3 June, 2026
Christopher Romero, MD, a pediatric endocrinologist at Mount Sinai Medical Center, New York City, and Associate Professor of Pediatrics at the Icahn School of Medicine at Mount Sinai discusses arginine vasopressin deficiency. The name of the rare disease central diabetes insipidus was changed in 2024 to better reflect its etiology.Central diabetes insipidus, a rare disease, is unrelated to the common medical problem diabetes mellitus, other than they are both problems related to endocrinologic dysfunction. Whereas diabetes mellitus involves pancreatic function and the production of the hormone insulin, central diabetes insipidus involves the pituitary gland and regulation of the hormone vasopressin. Dr. Romero stated that a new name for central diabetes insipidus was introduced in 2024—arginine vasopressin deficiency (AVP-D) to reflect the difference and relieve misconceptions caused by the traditional naming. The central issue with AVP-D is the function of antidiuretic hormone, which regulates water concentrations in the body. Pediatric and adult patients with this vasopressin deficiency (which mediates antidiuretic hormone levels) excrete more urine than patients without the deficiency. “It causes these patients to drink more, to make up for the water loss,” said Dr. Romero, “resulting in kids being thirstier and having to use the bathroom more often.” As a result, AVP-D can lead to weight loss and loss of appetite, dehydration, and electrolyte abnormalities. He also pointed out that the abnormal cycle of drinking and urination in children interferes with school work and performance. “Unless you’re aware of [AVP-D], you may miss the diagnosis,” said Dr. Romero. The pituitary gland is involved with so many functions, and symptoms only slowly evolve. Issues with the onset of puberty and growth may hint at the pituitary source of the problem. Historically, treatment was managed with an oral formulation of vasopressin, which was first available in the 1970s. An intravenous form was available in inpatient settings. A nasal spray formulation was subsequently developed, and is useful particularly with older children. Dr. Romero pointed out, figuring out the correct dosage for an individual pediatric patient is key; every child with AVP-D is different in terms of how much water they lose during the drinking–urination cycle. “Even though the oral form was effective, only two dosages were available. You have to titrate the dose to balance the water loss,” he emphasized.The introduction of Desmoda in February 2026, an oral solution of desmopressin acetate 0.05 mg/mL, allows for easier titration. The solution may be easier to take than the pills for young children, and caregivers may have a better idea of precisely how much medication the patient is getting. For those reasons, Dr. Romero believes this formulation may be the best option for young pediatric patients with AVP-D.
