Primary Hyperoxaluria Type 1: The First Patient Treated with Lumasiran in Portugal
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 treate...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Publicações Ciência e Vida
2023-06-01
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| Series: | Revista Portuguesa de Nefrologia e Hipertensão |
| Subjects: | |
| Online Access: | https://spnefro.pt/_doi/1a04465e-62e7-4027-a6ec-4aa67429960e/b59869c2-7aae-4a8e-bc24-b95ec315086c |