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

• Main Authors: Madalena Almeida Borges (Author), João Martins (Author), Joana Monteiro Dias (Author), Nuno Moreira Fonseca (Author), Telma Francisco (Author), Margarida Abranches (Author)
• Formato: Livro
• Publicado em: Publicações Ciência e Vida, 2023-06-01T00:00:00Z.
• Assuntos: article
• Acesso em linha: Connect to this object online.

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...