Work

Late Diagnosis of X-Linked Arginine Vasopressin Resistance Presenting With Flow Uropathy in Adulthood

Year: 2025

Type: article

Abstract: Congenital arginine vasopressin resistance (AVP-R) is a rare inherited disorder caused by renal unresponsiveness to arginine vasopressin (AVP), leading to persistent polyuria and polydipsia. We report a 19-year-old male individual with a long history of excessive thirst and urination who remained undiagnosed until adulthood. Despite normal growth and development, he was found to have bilateral hydronephrosis and underwent pyeloplasty at age 19. Postoperative fluid restriction resulted in life-threatening hypernatremia and seizures. Further evaluation revealed persistently low urine osmolality despite hypernatremia, elevated plasma copeptin, and no response to desmopressin or vasopressin, confirming AVP-R. Genetic testing identified a hemizygous arginine vasopressin receptor 2 (AVPR2) missense variant (c.357G>C; p.Gln119His), confirming X-linked congenital AVP-R. Treatment with thiazide diuretic, sodium restriction, and liberal fluid intake led to symptom relief and biochemical stability. This case highlights the diagnostic challenges of congenital AVP-R in patients without growth impairment and underscores the importance of molecular confirmation for appropriate management and family screening.

Source: JCEM Case Reports

DOI: 10.1210/jcemcr/luaf236

Authors: Vivek Jha, Rahul Gupta, Sanja Medenica, Mirjam Christ-Crain, Pinaki Dutta

Institutions: Post Graduate Institute of Medical Education and Research, All India Institute of Medical Sciences Bhopal, University of Montenegro, University of Basel, University Hospital of Basel

Language: English

Topic: Electrolyte and hormonal disorders

Subfield: Pulmonary and Respiratory Medicine

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $930