Absence of SLC22A12/URAT1 Gene Mutations in Patients with Primary Gout

Abstract

To the Editor: In most patients with primary gout, hyperuricemia has been related to a decreased urinary uric acid excretion, but the specific gene abnormalities that may cause an impaired tubular transport of urate are unknown. The first urate transporter described was SLC22A12/URAT1 1. Mutations in the SLC22A12/URAT1 gene have been associated to primary renal hypouricemia type I (OMIN 220150) in several populations1,2,3,4,5, although some ethnic differences may explain the lack of association between this gene and primary renal hypouricemia in other populations such as Greek whites6. Because this transporter reabsorbs urate from the renal tubule, loss of function mutations may cause renal urate wasting and hypouricemia. However, it has been reported that among 69 Mexican patients with primary … Address correspondence to Dr. R.J. Torres, Servicio de Bioquímica, Edificio Laboratorio, Hospital Universitario La Paz, Paseo de la Castellana 261, 28046 Madrid, Spain. E-mail: rtorres.hulp{at}salud.madrid.org