2023•Portuguese Journal of Nephrology & HypertensionOpen access
Primary Hyperoxaluria Type 1: The First Patient Treated with Lumasiran in Portugal
Madalena Borges, João Figueiredo Martins, Joana Monteiro Dias, Nuno Moreira Fonseca, Telma Francisco, Margarida Abranches
Open full text 0 citations
Abstract
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.
Open-access reader