BORGES, Madalena Almeida et al. Primary Hyperoxaluria Type 1: The First Patient Treated with Lumasiran in Portugal. []. , 37, 2, pp.93-96.   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.

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

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