1 - Pediatric Nephrology Unit, Hospital Dona Estefânia, Centro Hospitalar Universitário de Lisboa Central, Lisbon, Portugal
2 - Nephrology Unit, Hospital de Curry Cabral, Centro Hospitalar Universitário de Lisboa Central, Lisbon, Portugal
- Port J Nephrol Hypert 2023; 37(2): 93-96.
- http://doi.org/10.32932/pjnh.2023.03.233
Primary hyperoxaluria type 1 is a rare genetic disease caused by mutations in AGXT, leading to an excessive hepatic production of oxalate, resulting in urolithiasis, nephrocalcinosis and chronic kidney disease. The authors present the case of a young female with PH1 who is the first patient treated with lumasiran in Portugal, and currently has a follow-up of 18 months.
Palavras Chave: Hyperoxaluria, Primary/drug therapy, Kidney Calculi, RNAi Therapeutics, Small Interfering/therapeutic use