Table 1 Characterizations of RHUC
| Â | RHUC1 | RHUC2 | |
|---|---|---|---|
Mutated gene | SLC22A12 | SLC2A9 | |
Mutated protein | URAT1 | GLUT9 | |
Inheritance pattern | Autosomal recessive | Autosomal recessive | |
Serum UA | 0.5–1.0 mg/dl (Homozygous or compound heterozygous) | 0.5–1.0 mg/dl (Heterozygous) | 0–0.2 mg/dl (Homozygous or compound heterozygous) |
FE-UA | 40–90% | 13% |  > 100% |
UA transport defect | Partial absorption defect | Partial absorption defect | Total reabsorption defect |
Location (proximal tubules) | Apical side | Basolateral side and apical side | |
Complications | Nephrolithiasis, EIAKI and PRES | Nephrolithiasis, EIAKI and PRES | |