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