DISEASE SCANNER
Global Incurable Diseases Tracker
Primary Hyperoxaluria Type 1
Rare autosomal recessive disorder caused by deficiency of alanine-glyoxylate aminotransferase (AGT). Leads to overproduction of oxalate, causing recurrent kidney stones, nephrocalcinosis, and end-stage renal disease.
15.0K
15
Symptoms
Treatment Options
Risk Factors
Diagnostic Methods
- 124-hour urine oxalate
- 2Plasma oxalate
- 3Kidney stone analysis
- 4Genetic testing
- 5Renal ultrasound
- 6CT scan
Prognosis
Without treatment, ESRD develops in 50% by age 15, 80% by age 30. Lumasiran reduces urinary oxalate by 65%. Combined liver-kidney transplant offers best long-term outcome with 80% 10-year survival. Early diagnosis and aggressive management improve outcomes significantly. Oxalate deposition in bones and other organs occurs in ESRD.
Prevention
- Genetic counseling
- Prenatal diagnosis
- Newborn screening (limited regions)
- Early treatment
Research Status
High fluid intake and potassium citrate to reduce stone formation. Pyridoxine (vitamin B6) reduces oxalate in some patients. Lumasiran (RNAi therapy) approved to reduce oxalate. Combined liver-kidney transplant for ESRD.
Affected Countries
Sources
- https://www.ncbi.nlm.nih.gov/books/NBK1283
- https://www.rarediseases.org
- https://www.kidney.org
Medical Disclaimer
This information is for educational purposes only. Always consult healthcare professionals for medical advice, diagnosis, and treatment.