Primary Hyperoxaluria Type 1 - PubMed
3 days ago
- #Kidney Disease
- #Genetic Disorder
- #Primary Hyperoxaluria
- Primary Hyperoxaluria Type 1 (PH1) is caused by a deficiency of the liver enzyme alanine-glyoxylate aminotransferase (AGT), leading to excessive oxalate production.
- PH1 presents in infancy (10%), childhood/adolescence (70%), or adulthood (20%), with symptoms including nephrolithiasis and nephrocalcinosis.
- Untreated PH1 progresses to chronic kidney disease (CKD) and systemic oxalosis, affecting bones, heart, and retina, potentially leading to death.
- Diagnosis involves detecting high urinary oxalate levels and identifying biallelic pathogenic variants in the AGXT gene.
- Treatment includes pyridoxine for responsive AGXT variants, RNAi therapeutics (lumasiran, nedosiran), and liver transplantation.
- Supportive care focuses on reducing stone formation, preserving kidney function, and may require dialysis or kidney transplantation.
- Lifelong surveillance is necessary to monitor kidney function, urine oxalate levels, and signs of systemic oxalosis.
- Avoid volume depletion, high oxalate foods, excessive vitamin C, and nephrotoxic drugs.
- Family screening is recommended due to intrafamilial variability and the availability of effective treatments.
- Pregnancy in PH1 requires close monitoring, with caution advised regarding the use of RNAi therapeutics.
- PH1 is inherited in an autosomal recessive manner, with genetic counseling recommended for at-risk families.