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Treatment of primary hyperoxaluria type 1
Asheeta Gupta1, Michael J G Somers2, Michelle A Baum2
1Consultant Paediatric Nephrologist, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.
Clinical Kidney Journal
|May 20, 2022
Summary
Primary hyperoxaluria type 1 (PH1) management includes supportive care and targeted therapies like pyridoxine or RNA interference agents. Advanced PH1 may require dialysis and transplantation for oxalate control and end-stage kidney disease.
Area of Science:
- Nephrology
- Genetics
- Biochemistry
Background:
- Primary hyperoxaluria type 1 (PH1) is a rare genetic disorder characterized by excessive oxalate production.
- PH1 often leads to kidney dysfunction, end-stage kidney disease (ESKD), and systemic oxalate deposition (oxalosis).
Purpose of the Study:
- To review current and emerging treatment strategies for PH1.
- To discuss the management of kidney function impairment and oxalosis in PH1 patients.
- To outline the role of transplantation in PH1 management.
Main Methods:
- Review of current literature on PH1 treatments, including supportive care, pharmacologic interventions, and transplantation.
- Analysis of treatment responses based on genotype and clinical presentation.
- Discussion of dialysis modalities and transplantation outcomes.
Main Results:
- Pyridoxine responsiveness varies among PH1 patients with specific genotypes.
- RNA interference agents represent a novel therapeutic approach for reducing urinary oxalate.
- Dialysis is crucial for managing hyperoxaluria and oxalosis, serving as a bridge to transplantation.
- Liver transplantation is curative for PH1, while kidney transplantation addresses ESKD.
- Combined liver-kidney transplantation may be necessary in severe cases.
Conclusions:
- Treatment for PH1 is evolving, with new targeted therapies offering improved outcomes.
- Multidisciplinary management involving nephrologists, geneticists, and transplant surgeons is essential.
- Transplantation offers a curative option but carries significant long-term risks, including immunosuppression.
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