Arginine vasopressin resistance

Arginine vasopressin resistance, formerly known as nephrogenic diabetes insipidus (NDI), is a rare condition in which the kidneys are unable to respond properly to arginine vasopressin (AVP, also called antidiuretic hormone or ADH). Normally, AVP acts on the collecting ducts of the kidneys to promote water reabsorption and concentrate urine. In this disorder, despite normal or elevated levels of AVP, the kidneys fail to concentrate urine, leading to the excretion of large volumes of dilute urine (polyuria) and compensatory excessive thirst and fluid intake (polydipsia). If fluid intake does not keep pace with urinary losses, patients can develop severe dehydration and hypernatremia (elevated blood sodium levels), which can be life-threatening, particularly in infants and young children. The most common hereditary form is X-linked recessive, caused by mutations in the AVPR2 gene encoding the vasopressin V2 receptor, accounting for approximately 90% of congenital cases. A less common autosomal recessive (or rarely autosomal dominant) form is caused by mutations in the AQP2 gene, which encodes the aquaporin-2 water channel. In neonates and infants, the condition typically presents with irritability, poor feeding, failure to thrive, fever, and recurrent episodes of dehydration. If untreated or inadequately managed, chronic dehydration can lead to growth retardation, intellectual disability, and dilation of the urinary tract (hydroureter and hydronephrosis) due to high urine volumes. Treatment focuses on ensuring adequate fluid intake to prevent dehydration and reducing urine output. A low-solute diet (low sodium, low protein) helps decrease the osmotic load on the kidneys. Thiazide diuretics, often combined with amiloride or indomethacin (a nonsteroidal anti-inflammatory drug), are used to paradoxically reduce urine volume. Close monitoring of electrolytes, growth, and renal function is essential. There is currently no cure, but with early diagnosis and appropriate management, patients can lead relatively normal lives.

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

Common questions about Arginine vasopressin resistance