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Table 1 Case reports of patients with renal hypouricemia caused by SLC2A9 mutations

From: Recurrent exercise-induced acute kidney injury by idiopathic renal hypouricemia with a novel mutation in the SLC2A9 gene and literature review

Case reports Age (Year) Sex Mutation Ethnic group Serum urate (mg/dL) FEUA (%) Complications
Matsuo [16] 2008 70 F p.Arg380Trp* Japanese 1.5 15.7 No
43 M p.Arg380Trp* Japanese 2.7 14.6 No
32 F p.Arg198Cys* Japanese 2.1 No
Anzai [22] 2008 36 F p.Pro412Arg * Japanese 2.4 No
Dinour [6] 2010 46 M p.Leu75Arg# Israeli-Arab 0.2 >150 EIAKI
67 M p.Leu75Arg# Israeli-Arab 0.67 >150 Nephrolithiasis and CKD
36 M p.Leu75Arg# Israeli-Arab 0.04 >150 Nephrolithiasis
24 M p.Leu75Arg# Israeli-Arab 0.20 >150 EIAKI
19 M p.Leu75Arg# Israeli-Arab 0.10 >150 EIAKI
10 F p.Leu75Arg# Israeli-Arab 0.01 >150 No
69 M p.delExon7# Ashkenazi-Jewish 0.10 >150 Nephrolithiasis
Stiburkova [7, 23] 2011 21 M p.insCExon3# Czech 0.17 220 No
16 F p.insCExon3# Czech 0.17 ± 0.05 194 ± 99 No
Shima [17] 2011 11 F p.Gly207X/p.dupExon1a-11*# Japanese 0.1 58.3 EIAKI
Dinour [24] 2012 7.5 F p. Arg171Cys# Israeli-Arab 0.1 138 No
5.5 M p. Arg171Cys# Israeli-Arab 0.1 157 No
2.3 F p. Arg171Cys# Israeli-Arab 0.2 88.8 No
84 M p.Thr125Met# Sephardi-Jewish 0.2 151 No
Stiburkova [18] 2012 12 M p.Gly216Arg # Anglo-Saxon 0.20 45.8 EIAKI
14 M p.Gly216Arg / p.ASN333Ser*# Anglo-Saxon 0.16 93 EIAKI
Current study 2013 12 F p.Trp23Stop# Chinese 0.05 295.99 EIAKI
8 M p.Trp23Stop/WT* Chinese 1.94 24.72 No
  1. *Heterozygous, #Homozygous, *#Compound heterozygous. FEUA: fractional excretion of uric acid; EIAKI: exercise-induced acute kidney injury; CKD: chronic kidney disease. Reference ranges for uric acid [4]: 2.0 ~ 5.7 for under 15 years and adult female, 2.0 ~ 7.0 for adult male. Reference ranges for FE-UA [4]: 7.3 ± 1.3 for under 15 years and adult female, 10.3 ± 4.2 for adult male. Mean/median value for serum creatinine [25]: 45 μmol/L for 1–3 year, 57 μmol/L for 4–8 year, and 66 μmol/L for 9–17 year.