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Combined Liver-Kidney Transplantation for Primary Hyperoxaluria Type 2: A Case Report
T Dhondup1, E C Lorenz1, D S Milliner1
1Division of Nephrology and Hypertension, Mayo Clinic, Rochester, MN.
Summary
Combined liver and kidney transplant effectively treated primary hyperoxaluria type 2 (PH2) in one patient. This approach normalized oxalate levels, suggesting liver transplantation can correct the GRHPR enzyme deficiency.
Area of Science:
- Hepatology
- Nephrology
- Metabolic Disorders
Background:
- Primary hyperoxaluria type 2 (PH2) results from a deficiency in glyoxylate reductase/hydroxypyruvate reductase (GRHPR).
- The widespread distribution of GRHPR makes the effectiveness of liver transplantation for PH2 uncertain.
- Combined liver/kidney transplant is standard for PH1, but its role in PH2 is unproven.
Observation:
- A 44-year-old male with PH2, kidney failure, and kidney stones underwent a combined liver/kidney transplant.
- The patient experienced frequent kidney stone events prior to transplantation.
Findings:
- Post-transplant, plasma and urine oxalate levels normalized within one month.
- Urine glycerate levels also decreased significantly after the transplant.
- These metabolic improvements were sustained at 13-month follow-up.
Implications:
- Liver transplantation may be an effective treatment for primary hyperoxaluria type 2.
- Restoring GRHPR function via liver transplant could correct the underlying metabolic defect in PH2.
- Further studies are needed to confirm these findings in a larger patient cohort.
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