Table 1.
Laboratory Values at Presentation of PFIC Subtypes.
| Normal | PFIC 1b (n = 2) | PFIC 2a (n = 19) | PFIC 3b (n = 3) | |
|---|---|---|---|---|
| Bilirubin total (mg/dl) | 0.3–1.2 | 5.5, 13.3 | 2.7 (0.6–17.8) | 0.6, 2.1, 3.6 |
| Bilirubin direct (mg/dl) | 0–0.2 | 3.1, 9.5 | 1.8 (0.2–8.9) | 0.4, 1.3, 2.4 |
| AST (IU/L) | 5–40 | 48, 64 | 97 (42–403) | 60, 107, 143 |
| ALT (IU/L) | 10–40 | 24, 44 | 65 (29–579) | 70, 147, 165 |
| SAP (IU/L) | 32–92 | 581, 776 | 384 (132–667) | 226, 342, 628 |
| GGT (IU/L) | 7–64 | 38, 40 | 21 (5–158) | 112, 158, 225 |
| Albumin (g/dl) | 3.5–5.5 | 2.8, 3 | 3.1 (2.7–4.1) | 2.7, 3.6, 4.1 |
| Haemoglobin (g/dl) | 11–15 | 9.9, 11 | 10 (6.8–14) | 8.4, 13.6, 14 |
| Total count (per mm3) | 4000–11,000 | 11,800, 16,000 | 13,500 (4700–29,000) | 1300, 7200, 7900 |
| Platelet (per mm3) | 180–400 | 399, 646 | 238 (164–709) | 55, 164, 266 |
| Triglyceride (mg/dl) | 35–150 | 178, 352 | 189 (55–578) | 114, 152, 205 |
| Cholesterol (mg/dl) | <200 | 150, 164 | 148 (72–211) | 128, 136, 214 |
| Low 25-OH vitamin D3 (<30 ng/ml) | – | 7/8 (87%) | 3/3 (100%) | |
| Serum bile acid (μmol/L) | <10 | – | 100 (52.7–362)c | – |
a
Value in median (range).
b
Absolute values given for patients with PFIC 1 and 3.
c
Serum bile acid level measured in 10 cases of PFIC 2 only.