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K. Pavelcová

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Review Open access Aug 2026

Hereditary Renal Hypouricemia Caused by a Novel SLC2A9 Variant: Functional Characterization and Systematic Literature Review

Congenital renal hypouricemia (RHUC) is a heterogeneous inherited disorder characterized by impaired tubular uric acid transport with severe complications, such as acute kidney injury. Type 1 is caused by a loss-of-function mutation in the SLC22A12 gene (URAT1), type 2 in the SLC2A9 gene (GLUT9). We describe the clinic...

Jiří Vávra, Eliska Pacalova, K. Pavelcová et al. · 0 citations

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