Table 2.
Laboratory results for porphyria screening
Labs (unit) | Normal range | Value |
Laboratory results for porphyria screening | ||
Plasma | ||
Porphobilinogen (PBG) | – | NA (Sample haemolysed, thus not being analysed) |
Erythrocyte porphyrin | – | NA (Sample haemolysed, thus not being analysed) |
PBG: creatinine ratio | – | NA (Sample haemolysed, thus not being analysed) |
Urine | ||
Porphyrins (nmol/L) | 25–114 | 1737 ↑ |
Porphobilinogen | – | Negative |
Porphyrin to creatinine ratio (nmol/mmol) | 0–30 | 226 ↑ |
Total urine porphyrins:creatinine ratio (nmol/mmol) | 0–40 | 578 ↑ |
Fractionated urine porphyrin analysis | – | Uroporphyrin (62% of total hepatacarboxylic porphyrin 31%) ↑ |
Faecal | ||
Total faecal porphyrin (nmol/g) | 10–200 | 352 ↑ |
Fractionated faecal porphyrin analysis | – | Isocopropophyrin ↑ Heptacarboxylic Porphyrin ↑ |
Laboratory results of her admission bloods | ||
Plasma | ||
Haemoglobin | 120–160 | 125 |
Mean cell volume | 78–98 FL | 99.5↑ |
White cell count | 4–11×109 /L | 7.6 |
Platelets | 140–400×109 /L | 264 |