WCN26-5836 PRIMARY HYPEROXALURIA: FROM GENE TO KIDNEY STONE – PATHOPHYSIOLOGY, HETEROZYGOUS VARIANTS, ADVANCES IN MANAGEMENT, AND CENTER-BASED EXPERIENCE

Primary Hyperoxaluria (PH) is a rare group of autosomal recessive metabolic disorders that leads to excessive production of oxalate in the liver, resulting from enzyme deficiencies in glyoxylate metabolism. When assessing recurrent kidney stones, particularly in young patients or those with a family history, it is essential to consider rare genetic or metabolic causes in addition to common risk factors such as diet, dehydration, and hypercalciuria. This study aimed to identify these rare causes of recurrent kidney stones, especially in patients with a family history of such conditions.