Abstract

BORGES, Madalena Almeida et al. Primary Hyperoxaluria Type 1: The First Patient Treated with Lumasiran in Portugal. Port J Nephrol Hypert [online]. 2023, vol.37, n.2, pp.93-96.  Epub June 30, 2023. ISSN 0872-0169.  https://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.

Keywords : Hyperoxaluria, Primary/drug therapy; Kidney Calculi; RNA, Small Interfering/therapeutic use; RNAi Therapeutics.

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