Successful Treatment of Primary Hyperoxaluria Type 2 with a Combined Liver and Kidney Transplant

Primary hyperoxaluria type 2 (PH2) is a rare autosomal recessive disorder of endogenous oxalate overproduction caused by variants of the GRHPR gene. Deficiency of GRHPR enzyme activity leads to the accumulation of glyoxylate and hydroxypyruvate upstream of the deficient enzyme, resulting in hyperoxaluria. PH2 is characterized by recurrent nephrolithiasis, nephrocalcinosis, and chronic kidney disease. Progression to kidney failure has been reported in in up to 25% to 35% of patients in several large cohorts.