SLC2A9 and nephrolithiasis: In particular, Dinour et al. [10] and Shima et al. [13] reported patients that were either homozygous or compound heterozygous for mutations in SLC2A9, who showed severe hypouricemia (0.1-0.7 mg/dl), very high FE-UA (>150%) and a high incidence of EIARF, nephrolithiasis and CKD compared with the asymptomatic heterozygous carriers, who showed only moderately low serum UA levels (Table 2).