Primary Hyperoxaluria Type 1: The First Patient Treated with Lumasiran in Portugal

Primary Hyperoxaluria Type 1: The First Patient Treated with Lumasiran in Portugal

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.

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Bibliographic Details
Main Authors: Borges,Madalena Almeida, Martins,João, Dias,Joana Monteiro, Fonseca,Nuno Moreira, Francisco,Telma, Abranches,Margarida
Format: Digital revista
Language:English
Published: Sociedade Portuguesa de Nefrologia 2023
Online Access:http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-01692023000200093
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