Clinical and biological data of the 4 CEP patients
| . | Patient 110 (female) . | Patient 2 (male) . | Patient 3 (male) . | Patient 4 (female) . |
|---|---|---|---|---|
| Clinical classification* | Moderate | Mild | Mild | Mild |
| Genotype | ||||
| UROS | C73R/P248Q | C73R/P248Q | C73R/P248Q | C73R/P248Q |
| ALAS2 | Y586F/WT | WT | WT | WT/WT |
| Clinical | ||||
| Age at diagnosis/at examination | 10 mo/10 mo | 5 yr/5 yr | 2 yr/2 and 25 yr | 4 yr/4 yr |
| Scarring | + | − | − | − |
| Blistering | + | − | − | − |
| Mutilation | − | − | − | − |
| Hyperpigmentation | + | + | + | + |
| Hypertrichosis | + | − | − | − |
| Erythrodontia | + | + | + | + |
| Splenomegaly | + | − | − | − |
| Biochemical (unit, normal range) | ||||
| Hb (g/dL, > 11) | 9.6 | 14 | 14.4 | 13.9 |
| HCT (%, 36-51) | 33 | 43 | 42.9 | 42 |
| MCV (fL, 80-100) | 71 | 79 | 83.9 | 80 |
| Reticulocytes (%, 0.5-2) | 5.6 | 4.1 | 4.5 | 4.3 |
| Haptoglobin (g/L, 0.32-1.81) | 0.070 | 0.074 | 0.030 | 0.081 |
| LDH (U/L, 250-450) | 1042 | 615 | 605 | 754 |
| Porphyrins | ||||
| Urine | ||||
| Porphyrins (nmol/mmol Creat) normal range < 30 | 10 400 | 1350 | 2390 | 2860 |
| URO I, % | 63 | 67 | 68 | 66 |
| Erythrocytes | ||||
| Porphyrins, nmol/L (normal range < 1500) | 27 050 | 8030 | 5750 | 11 105 |
| ZPP, nmol/L/% | 5130/19 | 3050/38 | 400/7 | ND |
| URO I, nmol/L/% | 10 280/38 | 2490/31 | 3560/62 | ND |
| COPRO I, nmol/L/% | 7850/29 | 2490/31 | 1260/22 | ND |
| Plasma | ||||
| Emission peak, 619 nm | Yes | Yes | Yes | Yes |
| Enzymatic activity | ||||
| UROS, % normal | 7 | 8 | 6 | 7 |
| . | Patient 110 (female) . | Patient 2 (male) . | Patient 3 (male) . | Patient 4 (female) . |
|---|---|---|---|---|
| Clinical classification* | Moderate | Mild | Mild | Mild |
| Genotype | ||||
| UROS | C73R/P248Q | C73R/P248Q | C73R/P248Q | C73R/P248Q |
| ALAS2 | Y586F/WT | WT | WT | WT/WT |
| Clinical | ||||
| Age at diagnosis/at examination | 10 mo/10 mo | 5 yr/5 yr | 2 yr/2 and 25 yr | 4 yr/4 yr |
| Scarring | + | − | − | − |
| Blistering | + | − | − | − |
| Mutilation | − | − | − | − |
| Hyperpigmentation | + | + | + | + |
| Hypertrichosis | + | − | − | − |
| Erythrodontia | + | + | + | + |
| Splenomegaly | + | − | − | − |
| Biochemical (unit, normal range) | ||||
| Hb (g/dL, > 11) | 9.6 | 14 | 14.4 | 13.9 |
| HCT (%, 36-51) | 33 | 43 | 42.9 | 42 |
| MCV (fL, 80-100) | 71 | 79 | 83.9 | 80 |
| Reticulocytes (%, 0.5-2) | 5.6 | 4.1 | 4.5 | 4.3 |
| Haptoglobin (g/L, 0.32-1.81) | 0.070 | 0.074 | 0.030 | 0.081 |
| LDH (U/L, 250-450) | 1042 | 615 | 605 | 754 |
| Porphyrins | ||||
| Urine | ||||
| Porphyrins (nmol/mmol Creat) normal range < 30 | 10 400 | 1350 | 2390 | 2860 |
| URO I, % | 63 | 67 | 68 | 66 |
| Erythrocytes | ||||
| Porphyrins, nmol/L (normal range < 1500) | 27 050 | 8030 | 5750 | 11 105 |
| ZPP, nmol/L/% | 5130/19 | 3050/38 | 400/7 | ND |
| URO I, nmol/L/% | 10 280/38 | 2490/31 | 3560/62 | ND |
| COPRO I, nmol/L/% | 7850/29 | 2490/31 | 1260/22 | ND |
| Plasma | ||||
| Emission peak, 619 nm | Yes | Yes | Yes | Yes |
| Enzymatic activity | ||||
| UROS, % normal | 7 | 8 | 6 | 7 |
ALAS2 indicates 5-aminolevulinate synthase 2; CEP, congenital erythropoietic porphyria; COPRO I, coproporphyrin I; Hb, hemoglobin; HCT, hematocrit; LDH, L-lactate dehydrogenase; MCV, mean corpuscular volume; ND, not determined; URO I, uroporphyrin I; and ZPP, zinc protoporphyrin.
According to Desnick and Astrin.1