Felix Claverie-Martin, Jorge Trujillo-Suarez, Hilaria Gonzalez-Acosta, Cristina Aparicio, Maria L Justa Roldan, Blanka Stiburkova, Kimiyoshi Ichida, Maria A Martín-Gomez, Maria Herrero Goñi, Marta Carrasco Hidalgo-Barquero, Victoria Iñigo, Ricardo Enriquez, Elizabeth Cordoba-Lanus, Victor M Garcia-Nieto
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 Roma ethnia, diagnosed with idiopathic RHUC. Two of the patients presented exercise-induced acute renal failure and another one had several episodes of nephrolithiasis and four of them had progressive deterioration of renal function, while the rest were asymptomatic...
February 24, 2018: Clinica Chimica Acta; International Journal of Clinical Chemistry