Table 1 Biochemical and Phenotype of proband and family members
Proband (9 years) | Younger Sister (2 years) | Elder Sister (14 years) | Mother (38 years) | Father (41 years) | |
|---|---|---|---|---|---|
Phenotype | Nephrolithiasis‚ Haematuria | Asymptomatic | Asymptomatic | Asymptomatic | Asymptomatic |
sUA (μmol/L) | 97 (120–320) | 86 (120–320) | 81 (120–320) | 179 (150–350) | 172 (150–350) |
FE-UA (%) | 33 (6–12) | 25 (6–12) | 15 (6–12) | 9 (6–12) | 13 (6–12) |
Identified variants | SLC22A12: c.1400C > T (C/T) SLC2A9: c.757G > A (A/A) c.1049C > T (C/T) | SLC22A12: c.1400C > T (C/T) SLC2A9: c.757G > A (A/A) c.1049C > T (C/T) | SLC22A12: c.1400C > T (C/T) | SLC2A9: c.757G > A (G/A) c.1049C > T (C/T) | SLC22A12: c.1400C > T (C/T) SLC2A9: c.757G > A (G/A) |