Clinical, biochemical and genotype results
| Patient | Age at presentation (years) | Symptom | Plasma creatinine (μmol/l) | Urine oxalate *(μmol/1.73 m2/d, N<460) | Mutation |
|---|---|---|---|---|---|
| 1 | 12 | left renal stone, haematuria | 85 | 700–2020 | c.117C>A; p.Y39X(h) c.208C>T; p.R70X(h) |
| 2 | 0.5 | UTI, bilateral stones | 25 | 750–880* | c.700+5G>T(H) |
| 3 | 2.5 | Left renal and bladder stones | 35 | 424–838 | c.700+5G>T(h)c.907C>T; p.R303C(h) |
| 4 | 10 | Haematuria, bilateral stones | 57 | 710–1110 | c.700+5G>T(H) |
↵* extrapolated from 12-h collection. (h): heterozygous; (H): homozygous.