TY - JOUR AU - Vidanapathirana, Dinesha Maduri AU - Jayasena, Subashinie AU - Jasinge, Eresha AU - Stiburkova, Blanka PY - 2018 DA - 2018/06/29 TI - A heterozygous variant in the SLC22A12 gene in a Sri Lanka family associated with mild renal hypouricemia JO - BMC Pediatrics SP - 210 VL - 18 IS - 1 AB - Renal hypouricemia is a rare heterogeneous inherited disorder characterized by impaired tubular uric acid transport, reabsorption insufficiency and /or acceleration of secretion. The affected individuals are predisposed to nephrolithiasis and recurrent episodes of exercise-induced acute kidney injury. Type 1 is caused by dysfunctional variants in the SLC22A12 gene (URAT1), while type 2 is caused by defects in the SLC2A9 gene (GLUT9). To date, more than 150 patients with the loss-of-function mutations for the SLC22A12 gene have been found (compound heterozygotes and/or homozygotes), most of whom are Japanese and Koreans. SN - 1471-2431 UR - https://doi.org/10.1186/s12887-018-1185-9 DO - 10.1186/s12887-018-1185-9 ID - Vidanapathirana2018 ER -