Table 1.
Demographic, biological and clinical findings in three reported cases of CEP patients treated by iron depletion therapy.
| Characteristics | Case #1 | Case #2 | Case #3 | |
|---|---|---|---|---|
| Reference | 12 | 13 | present CEP patient | |
| Sex | Female | Female | Female | |
| Age at diagnosis | 12 months | 25 years | 8 years | |
| UROS genotype | c.217 T > C / c.311C > T | c.172G > A / c.172G > A | c.598A > T / c.562-4A > G | |
| UROS variant | p.Cys73Arg / p.Ala104Val | p.Gly58Ser | p.Ser197Gly / p.Gln187_Ter266delins31 | |
| UROS enzymatic activity * | N.R. | 1.7 U/mg Hb/h (N > 6) | 2.4 U/mg Hb/h (N > 6) | |
| Clinical and biological findings before treatment | Skin photosensitivity | + | + | + |
| Hemolysis | + | + | − | |
| Anemia | + (blood transfusion) | − | − | |
| Red urine | + | + | +/− | |
| Splenectomy | + (25 years old) | − | − | |
| Erythrodontia | + | + | +/− | |
| Total urine porphyrins | 108,364 μg/24 h § | 2642 nmol/mmol creat (N < 25) | 3698 nmol/mmol creat (N < 25) | |
| Erythrocyte porphyrins | N.R. | 8.7 μmol/L RBC (N < 1.2) | N.D. | |
| Plasma porphyrins | N.R. | 289 nmol/L (N < 20) | N.D. | |
| Therapeutic management | Sun avoidance, supportive measures Splenectomy, transfusion | Sun avoidance, supportive measures | Sun avoidance, supportive measures | |
| Clinical and biological findings upon iron depletion therapy | Age at treatment initiation | 32 years | 49 years | 26 years |
| Lenght of follow-up | 8 months (iron chelation) | 23 months | 26 months | |
| Skin photosensitivity | − | − | − | |
| Hemolysis | − | − | − | |
| Anemia (transfusion) | +/− (no transfusion) | − | - (MCV↓) | |
| Red urine | N.R. | − | − | |
| Erythrodontia | N.R. | N.R. | +/− | |
| Total urine porphyrins | 5896 μg/24 h § | 271 nmol/mmol creat (N < 25) | 270 nmol/mmol creat (N < 25) | |
| Erythrocyte porphyrins | N.R. | 7.3 μmol/L RBC (N < 1.2) | 6.8 μmol/L RBC (N < 1.2) | |
| Plasma porphyrins | N.R. | 26 nmol/L (N < 20) | N.D. | |
| Clinical outcome | Reduced skin photosensitivity Improved QoL | Reduced skin photosensitivity Improved QoL | Reduced skin photosensitivity Improved QoL |
N.R. not reported; N.D. not determined; * UROS enzymatic activity determined in red blood cells; § Normal values are not provided in ref. [12] but are usually <200-300 mg/24 h; MCV mean corpuscular volume, + positive; − negative; QoL Quality of Life (reported by the patient, not formerly measured in all three studies).