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Article

URAT1 and GLUT9 mutations in Spanish patients with renal hypouricemia.

Clinica chimica acta; international journal of clinical chemistry - 1 Jun 2018

Claverie-Martin Felix, Trujillo-Suarez Jorge, Gonzalez-Acosta Hilaria, Aparicio Cristina, Justa Roldan Maria L, Stiburkova Blanka, Ichida Kimiyoshi, Martín-Gomez Maria A, Herrero Goñi Maria, Carrasco Hidalgo-Barquero Marta, Iñigo Victoria, Enriquez Ricardo, Cordoba-Lanus Elizabeth, Garcia-Nieto Victor M

Abstract excerpt

BACKGROUND: Renal hypouricemia (RHUC), a rare inherited disorder characterized by impaired uric acid (UA) reabsorption in the proximal tubule, is caused by mutations in SLC22A12 or SLC2A9. Most mutations have been identified in Japanese patients, and only a few have been detected in Europeans. METHODS: We report clinical, biochemical and genetics findings of fourteen Spanish patients, six Caucasians and eight of...

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PMID: 29486147
DOI: 10.1016/j.cca.2018.02.030

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