Table 2.
Clinical and biochemical findings in Italian XLP families
| Family/patient | Sex | Peak (nm) | Fluorocytes (%) n.v.: 0–1% |
Erythrocyte protoporphyrins (mcg/gHgB) n.v.: <3 mcg/gHB (%) |
Photosensitivity from childhood | Genotype |
|---|---|---|---|---|---|---|
| A | ||||||
| Pt 1 (III.1) | F | 632 | 30.9 | 92.5 (Zn62PPIX38) | Yes | c.1706-1709 delAGTG |
| Pt 2 (III.2) | M | 630 | 38.9 | 25.4 (Zn54PPIX46) | Yes | c.1706-1709 delAGTG |
| Mother (II.2) | F | No peak | 5.84 | 4.8 (Zn53PPIX47) | No | c.1706-1709 delAGTG |
| Pt 3 (III.3) | M | 627 | 59.85 | 136.4 (Zn46PPIX54) | Yes | c.1706-1709 delAGTG |
| Mother (II.3) | F | No peak | 4.54 | 6.3 (Zn51PPIX49) | No | c.1706-1709 delAGTG |
| Grandmother (I.2) | F | No peak | 2.90 | 5.2 (Zn58PPIX42) | No | c.1706-1709 delAGTG |
| B | ||||||
| Pt 4 (II.1) | M | 635 nm | 19.25 | 29.2 (Zn84PPIX16) | Yes | c.1706-1709 delAGTG |
| Mother (I.2) | F | No peak | 0.24 | 1.7 (Zn92PPIX8) | No | c.1706-1709 delAGTG |
| C | ||||||
| Pt 5 (II.1) | M | 632 nm | 36.90 | 69 (Zn43PPIX57) | Yes | c.1706-1709 delAGTG |
| Mother (I.2) | F | no peak | 1.06 | 1.1 (Zn93PIX7) | No | wt-wt |
| D | ||||||
| Pt 6 (I.2) | F | 632 nm | 35.48 | 82 (Zn45PPIX55) | Yes | c.1706-1709 delAGTG |