Table 2 Molecular and clinical features of all RHUC2 patients reported to date
SLC2A9mutations | Status | Gender | Age | Serum UA | FE-UA | Clinical manifestations | References |
|---|---|---|---|---|---|---|---|
(GLUT9L, NP_064425.2) | (years) | (mg/dl) | (%) | ||||
p.Pro412Arg/WT | Heterozygous | Female | 36 | 2.4 | NA | No | [12] |
p.Arg380Trp/WT | Heterozygous | Female | 70 | 1.5 | 15.7% | No | [11] |
Male | 43 | 2.7 | 14.6% | No | |||
p.Arg198Cys/WT | Heterozygous | Female | 32 | 2.1 | NA | No | [11] |
p.Leu75Arg/p.Leu75Arg | Homozygous | Male | 67 | 0.67 | >150% | Nephrolithiasis, CKD | [10] |
Male | 46 | 0.20 | >150% | EIARF | |||
Male | 36 | 0.04 | >150% | Nephrolithiasis | |||
Female | 10 | 0.01 | >150% | No | |||
Male | 24 | 0.2 | >150% | EIARF | |||
Male | 19 | 0.1 | >150% | EIARF | |||
p.Leu75Arg/WT | Heterozygous | Female | 64 | 4.5 | 5.4% | No | [10] |
Female | 28 | 2.0 | 21.7% | No | |||
Female | 38 | 2.2 | 19.6% | No | |||
Female | 48 | 3.4 | 7.5% | No | |||
Female | 40 | 3.7 | 7.4% | No | |||
Female | 44 | 3.1 | 12.4% | No | |||
Male | 5 | 2.6 | NA | No | |||
Female | 15 | 2.4 | NA | No | |||
Male | 16 | 2.0 | 17% | No | |||
delExon7/delExon7 | Homozygous | Male | 69 | 0.1 | >150% | Nephrolithiasis | [10] |
p.Gly236*/dupExon1a-11 | Compound heterozygous | Female | 11 | 0.1 | >150% | EIARF | [13] |
p.Gly236*/WT | Heterozygous | Female | 46 | 3.4 | NA | No | [13] |
dupExon1a-11/WT | Heterozygous | Male | 52 | 4.8 | NA | No | [13] |
p.Ile119Hisfs*27/p.Ile119Hisfs*27 | Homozygous | Female | 16 | 0.17 | >150% | No | [6] |
Male | 21 | 0.17 | >150% | No | |||
p.Ile119Hisfs*27/WT | Heterozygous | Male | NA | 5.6 | 7.6% | No | [6] |
Female | NA | 2.9 | 12.8% | No | |||
p.Arg171Cys/p.Arg171Cys | Homozygous | Female | 7.5 | 0.1 | 138% | No | [14] |
Male | 5.5 | 0.1 | 157% | No | |||
Female | 2.3 | 0.2 | 88.8% | No | |||
p.Arg171Cys/WT | Heterozygous | Female | 24 | 3.8 | 3.2% | No | [14] |
Male | 37 | 4.9 | 6.5% | No | |||
p.Thr125Met/p.Thr125Met | Homozygous | Male | 84 | 0.2 | >150% | No | [14] |
p.Gly216Arg/p.Asn333Ser | Compound heterozygous | Male | 14 | 0.67 | 93% | EIARF | [7] |
p.Gly216Arg/p.Gly216Arg | Homozygous | Male | 12 | 0.5 | 46% | EIARF | [7] |
p.Gly216Arg/p.Arg380Trp | Compound heterozygous | Male | 24 | 0.1 | >150% | EIARF | This study |