Raising Awareness Towards Underdiagnosed Renal Hypouricemia: A Case Report

• Glavni autori: Pedro Lisboa-Gonçalves (Autor), Filipa Ferreira (Autor), Isabel Tavares (Autor), João Paulo Oliveira (Autor)
• Format: Knjiga
• Izdano: Publicações Ciência e Vida, 2023-06-01T00:00:00Z.
• Teme: article
• Online pristup: Connect to this object online.

Renal hypouricemia (RHUC) is an autosomal recessive disease caused by the dysfunction of uric acid (UA) transporters in the proximal tubule causing increased fractional excretion of uric acid (FEUA). It is associated with mutations of SLC22A12 that codifies for URAT1, involved in RHUC type 1, or SLC...