DISEASE SCANNER
Global Incurable Diseases Tracker
Primary Hyperoxaluria
A group of rare genetic disorders causing overproduction of oxalate, leading to calcium oxalate kidney stones, nephrocalcinosis, and end-stage renal disease. Three types with different enzyme deficiencies (AGXT, GRHPR, HOGA1).
10.0K
15
Symptoms
Treatment Options
Risk Factors
Diagnostic Methods
- 1Genetic testing
- 2Clinical evaluation
- 3Family history assessment
- 4Specialized laboratory tests
- 5Imaging studies
- 6Biopsy (if applicable)
Prognosis
Without treatment, end-stage renal failure develops by age 15-20 in Type 1, later in Type 2. Dialysis is insufficient to remove oxalate. Combined liver-kidney transplant is curative for Type 1 and 2; isolated kidney transplant for Type 3. Pre-emptive liver transplant before renal failure may be considered. Lumasiran (RNAi therapy) significantly reduces oxalate production in Type 1. Intensive dialysis and pyridoxine (Type 1) may delay progression. Early diagnosis critical.
Prevention
- Genetic counseling
- Carrier screening
- Prenatal diagnosis
- Preimplantation genetic diagnosis
- Family planning
Research Status
High fluid intake, urinary crystallization inhibitors. Pyridoxine for PH type 1 (some responsive). Lumasiran (RNAi therapy) reduces oxalate production. Combined liver-kidney transplant for ESRD. Early diagnosis critical.
Affected Countries
Sources
- https://www.ncbi.nlm.nih.gov/books/NBK1116
- https://medlineplus.gov/genetics
- https://rarediseases.org
Medical Disclaimer
This information is for educational purposes only. Always consult healthcare professionals for medical advice, diagnosis, and treatment.