Table II.
Biochemical indices in family 1 with NTCP deficiency.
| Mother | ||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Patient 1 | Father | AP | Gestational ages | PP | Aunt | MGF | ||||||||||||||||
| Indices (reference range) | 26.5M | 27.2M | 27.7Ma | 28.7M | 31.3M | 41M | 4Y | 25Y | 26Y | 27Y | 28Y | 31Y | 31Y | 32Y | 23.5Y | 12+2W | 15+6W | 32W | 39+6W | 29.3Y | 35Y | 59Y |
| ALT (5–40 U/l) | 158 | 36 | 28 | 34 | 20 | 20 | 13 | 13 | 12 | 7 | 14 | 5 | 8 | 4 | 15 | 13 | 32 | 19 | 14 | 13 | 10.4 | 29 |
| AST (5–40 U/l) | 147 | 80 | 76 | 59 | 43 | 40 | 32 | 18 | 28 | 18 | 23 | 15 | 18 | 14 | – | 17 | 22 | 18 | 16 | 14 | 12.9 | 22 |
| GGT (8–50 U/l) | – | 24 | 20 | 13 | 14 | 15 | 12 | – | – | – | – | – | 21 | – | 12 | – | – | 9 | 10 | 12 | 52.6 | – |
| ALP (20–500 U/l) | 236 | 218 | 273 | 277 | 1939 | 204 | 190 | 110 | 123 | 94 | 91 | 74 | 100 | 89 | – | – | – | – | – | 49 | 12.9 | 61 |
| TBA (0–10 µmol/l) | 103.8 | 30.8 | 70.5 | 132.3 | 18.6 | 63.8 | 44.7 | 23.4 | 9.8 | 21.1 | 27.4 | 19.7 | 30 | 58.2 | – | 2.17 | 1.76 | 1.67 | 6.55 | 4 | 45.5 | 21.6 |
| Tbil (5.1–23 µmol/l) | 8.9 | 3.3 | 5.4 | 7 | 7.9 | 4.6 | 6.8 | 8.3 | 13.1 | 12.4 | 16.8 | 8.7 | 11.4 | 4.9 | 13.9 | – | – | 7.1 | 7.6 | 11.2 | 13.3 | 9.4 |
| Dbil (0.6–6.8 µmol/l) | 4 | 2 | 1.4 | 2.4 | 2.4 | 1.8 | 3 | 3.1 | 4.6 | 4.3 | 2.8 | 3.9 | 3.9 | 2.4 | 3.7 | – | – | 1.5 | 1.9 | 3 | 4.5 | 3.4 |
| Ibil (1.7–17 µmol/l) | 4.9 | – | 4 | 4.6 | 5.5 | 2.8 | 3.8 | 5.2 | 9 | 8.1 | – | 4.8 | 7.5 | 2.5 | 10.2 | – | – | 5.6 | 5.7 | 8.2 | 8.8 | 6 |
| TP (65–85 g/l) | 68.1 | 72.1 | 65.9 | 67.4 | 67.5 | 71.5 | 65.8 | 86.3 | 74.1 | 70.3 | 80 | 74.8 | 78 | 70 | 70.6 | – | – | 68.6 | 64.7 | 7.69 | 72.8 | 72.8 |
| ALB (40–55 g/l) | 48.4 | 48.8 | 47.1 | 47.6 | 47.9 | 50 | 47.3 | 54.9 | 51.3 | 53 | 51.3 | 48.8 | 53.3 | 50.3 | 44.2 | – | – | 39.9 | 37.6 | 48.2 | 47.6 | 41.5 |
| GLB (20–40 g/l) | 19.7 | 23.3 | 18.8 | 19.8 | 19.6 | 21.5 | 18.5 | 31.4 | 22.8 | 20.3 | 28.7 | 26 | 24.7 | 19.7 | 26.4 | – | – | 28.7 | 27.1 | 28.7 | 25.2 | 31.3 |
a
First admission to hospital. M, months. W, weeks. Y, years. -, not tested. ALT, alanine transaminase; AST, aspartate transaminase; GGT, γ-glutamyl transpeptidase; ALP, alkaline phosphatase; TBA, total bile acids; Tbil, total bilirubin; Dbil, direct bilirubin; Ibil, indirect bilirubin; TP, total protein; ALB, albumin; GLB, globulin; MGF, maternal grandfather; PP, postpartum; AP, antepartum.