Primary hyperoxaluria type 1 (PH1) is a rare autosomal recessive disorder caused by mutations in the AGXT gene, leading to excessive hepatic oxalate production and progressive kidney damage. Calcium oxalate accumulation results in nephrocalcinosis, urolithiasis, and systemic oxalosis, especially after renal function declines. Traditional treatments include hyperhydration, citrate, and pyridoxine, which is effective in select genotypes. However, many patients progress to end-stage kidney disease (ESKD), particularly in settings with delayed diagnosis.
Molin et al. (Wed,) studied this question.