Table 1.
Patient characteristics
| Patient ID | Gender and age | TMA μmol/mmol creatinine | TMA‐N‐oxide μmol/mmol creatinine | TMA N‐oxide/(TMA + TMA) N‐oxide (%) | Severity | Ethnicity | Genotype |
|---|---|---|---|---|---|---|---|
| 1 | M, 68 | 25.5 | 75 | 75% | Moderate | Irish | No pathogenic variant detected. Heterozygous for c.472G>A;923A>G, p.(Glu158Lys;Glu308Gly) common variant haplotype |
| 2 | M, 31 | 24.8 | 38.2 | 60% | Severe | Irish | Compound heterozygous for c.458C>T,p.(Pro153Leu) and c.682G>A,p.(Gly228Ser) |
| 3 | F, 35 | 11.8 | 32.5 | 73% | Moderate | Irish | Compound heterozygous for c.458C>T,p.(Pro153Leu) and c.694G>T, p.(Asp232Tyr) |
| 4 | F, 48 | 29.7 | 80.7 | 73% | Moderate | Irish | No pathogenic variant detected |
| 5 | F, 28 | 23.3 | 53.9 | 70% | Moderate | Irish | No pathogenic variant detected |
| 6 | F, 65 | 9 | 69.5 | 83% | Mild | Irish | No pathogenic variant detected |
| 7 | F, 30 | 18.6 | 89.3 | 83% | Mild | Irish | No pathogenic variant detected. Heterozygous for c.472G>A:923A>G, p.(Glu158Lys);(Glu308Gly) common variant haplotype |
| 8 | F, 72 | 42.9 | 58.6 | 58% | Severe | Irish | Homozygous for c.472G>T;923A>G, p.(Glu158Lys);(Glu308Gly) |
| 9 | F, 37 | 23.3 | 53.9 | 70% | Moderate | Irish | No pathogenic variant detected |
| 10 | F, 13 | 25.8 | 33.5 | 56% | Severe | Irish | Homozygous for c.913G>T,p.(Glu305*) |
| 11 | F, 28 | 18.1 | 44.3 | 71% | Moderate | Irish | Compound heterozygous for c.458C>T;p.(Prol53Leu) and c.989G>A;p.(Gly330Glu) |
| 12 | M, 35 | 6.3 | 25.6 | 80% | Mild | Irish | Homozygous: c.472G>A;923A>G:p.(Glu158Lys);(Glu308Gly) |
| 13 | F, 46 | 11.2 | 110.6 | 91% | Mild | Irish | Homozygous: c.472G>A;923A>G;p.(Glu158Lys);(Glu308Gly) |