Table 1.
Clinical and biochemical characteristics of the seven patients with cblC deficiency.
| Characteristic | Patient 1 | Patient 2 | Patient 3 | Patient 4 | Patient 5 | Patient 6 | Patient 7 |
|---|---|---|---|---|---|---|---|
| Gender | F | M | M | M | F | M | F |
| Onset age | 4y | 4y | 16m | 9m | 3y | 5y | 4y |
| Time from onset to diagnosis | 1m | 6y | 1.5m | 1.5m | 6.25y | 1m | 5m |
| Onset eGFR (ml/min/1.73 m2) | 96 | 52 | 21 | 108 | 42 | 34 | 99 |
| Hematuria | + | + | + | + | + | + | + |
| Proteinuria | + | + | + | + | + | + | + |
| Macrocytic anemia | + | + | + | + | + | + | + |
| Hemoglobin (g/L) | 86 | 112 | 88 | 79 | 104 | 73 | 84 |
| Platelets (×109/L) | 279 | 248 | 261 | 284 | 289 | 314 | 198 |
| Reticulocyte (%) | 1.99 | 3.30 | 12.8 | 13.5 | 3.38 | 12.46 | 1.15 |
| Total bilirubin (1.7–20 µmol/L) | 7.6 | 8.9 | 11.5 | 18.5 | 6.6 | 7 | 8.2 |
| Direct bilirubin (0–6 µmol/L) | 0.5 | 0.77 | 4.2 | 0.7 | 2.4 | 0.3 | 1.9 |
| Hypertension | − | + | + | + | + | + | + |
| Pulmonary hypertension | − | + | − | − | + | − | − |
| Intellectual disability | + | − | − | − | − | − | + |
| Epilepsy | − | − | − | − | − | − | + |
| LDH (100–240 U/L) | 319 | 293 | 588 | 620 | 249 | 1107 | 278 |
| Homosysteine (5–15 µmol/L) | 170 | 252 | 555 | 212 | 174 | 125 | 156 |
| Urine MMA (0.2–3.6 mg/gCr) | 15.2 | 119.8 | 13.6 | 2.77 | 0.92 at onset 42.91 at diagnosis |
3.9 | 10.4 |
| Renal biopsy | TMA | TMA | TMA | ND | ND | TMA | TMA |
| MMACHC variant | c.80A > G [p. (Gln27Arg)] c.658_660delAAG [p. (Lys220del)] |
c.80A > G [p. (Gln27Arg)] c.609G > A [p. (Trp203*)] |
c.80A > G [p. (Gln27Arg)] c.658_660delAAG [p. (Lys220del)] |
c.80A > G [p. (Gln27Arg)] c.80A > G [p. (Gln27Arg)] |
c.80A > G [p. (Gln27Arg)] c.609G > A [p. (Trp203*)] |
c.80A > G [p. (Gln27Arg)] c.609G > A [p. (Trp203*)] |
c.80A > G [p. (Gln27Arg)] c.609G > A, [p. (Trp203*)] |
| Follow-up duration after diagnosis | 4.5y | 8y | Dead | 7y | 7y | 7y | 3y |
| Last urine protein | Negative | 3.32 g/24 h | ND | Negative | Negative (post transplantation) | Negative | Negative |
| Last urine RBC | Negative | Negative | ND | Negative | Negative (post transplantation) | Negative | Negative |
| Last eGFR (ml/min.1.73 m2) | 97 | 64.84 | ND | 158 | Kidney transplant | 122.8 | 128 |
| Last homosysteine (5–15 µmol/L) | 88.7 | 75 | ND | 92.86 | 96.87 | 54.82 | 34.45 |
| Last urine MMA (0.2–3.6 mg/gCr) | 56.01 | 0.83 | ND | 61.69 | 0.9 | 0.8 | 2.76 |
F, female; M, male; y, year; m, month; eGFR, estimated glomerular filtration rate; TMA, thrombotic microangiopathy; ND, not done.