Abstract
We report the case of a patient with germline mutations in three genes, heterozygous factor V Leiden (FVL), heterozygous prothrombin gene G20210A, and type 1 primary hyperoxaluria (PH1) who underwent combined liver-kidney transplantation (LKT) for end stage renal disease (ESRD) secondary to PH1. It was noted that the patient’s combined thrombophilia was also corrected after LKT. PH1 is a rare autosomal-recessive disorder characterized by increased urinary excretion of calcium oxalate and accumulation of insoluble oxalate throughout the body. The disease is due to a functional defect in the liver-specific peroxisomal enzyme alanine-glyoxylate aminotransferase. Since the liver is the site of the metabolic defect, isolated kidney transplantation is not the optimal treatment due to a rapid oxalate redeposition in the kidney allograft. For this reason LKT is the optimal treatment in PH1 complicated with ESRD. . .
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