Table 1. Biochemical indices in the two infants with NTCP deficiency and their parents.
| Biochemical indices∆ | Patient 1 | Parents | Patient 2 | Parents | ||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 2D | 9D | 11D | 18D | 25D | 69D | Father | Mother | 5D | 6D | 8D | 30D | 33D | 84D | Father | Mother | |
| ALT (5–40 U/L) | – | 27 | – | 28 | 32 | 68 | 49 | 21 | 8 | 11 | 12 | 15.3 | 13 | 41.7 | 58.7 | 12.6 |
| AST (5–40 U/L) | – | 46 | – | – | 55 | 100 | 35 | 34 | 22 | 26 | 21 | 23.5 | 20 | 48 | 34.9 | 16 |
| GGT (8–50 U/L) | – | 183 | – | – | 173 | 96 | – | – | 109 | 110 | 130 | – | 88 | 37.6 | 65.7 | 11.7 |
| ALP (20–500 U/L) | – | 279 | – | – | 330 | 432 | – | – | 169 | 159 | – | – | 277 | 312.5 | 49.9 | 102.7 |
| TP (60.0–83.0 g/L) | – | 54.6 | – | – | 53.2 | 54.6 | 76.2 | – | 54.1 | 55 | – | – | 49.9 | 60.5 | 73.8 | 76.2 |
| ALB (35.0–55.0 g/L) | – | 40 | – | 38 | 38.9 | 42.7 | 47.7 | – | 37.2 | 36.8 | 35.8 | – | 37.8 | 44.6 | 47.9 | 46.1 |
| GLB (20.0–30.0 g/L) | – | 14.6 | – | – | 14.3 | 11.9 | 28.5 | - | 16.9 | 18.2 | – | – | 12.1 | 15.9 | 25.9 | 30.1 |
| Tbil (2–19 μmol/L▲) | 195.9 | 346.5 | 244.1 | 103 | 72.5 | 53.3 | – | – | 310.1 | 301.2 | 99.2 | 40.8 | 29.4 | 6.6 | 10.7 | 12.3 |
| Dbil (0–6 μmol/L) | 9.6 | 22.4 | 14.3 | 12.2 | 13.4 | 14.4 | – | – | 10.3 | 21.3 | 11.8 | 7.5 | 9.7 | 1.2 | 2.0 | 1.7 |
| Ibil (2.56–20.9 μmol/L) | 186.3 | 324.1 | 229.8 | 90.8 | 59.1 | 38.9 | – | – | 299.8 | 279.9 | 87.4 | 33.3 | 19.7 | 5.4 | 8.7 | 10.6 |
| TBA (0–10 μmol/L) | – | 66.2 | – | 93.3 | 49.6 | 88.8 | – | – | 83.9 | 95.1 | 75.8 | 157.9 | 59.7 | 42.7 | 10.0 | 4.1 |
| AFP (0–20 ng/mL▼) | – | – | – | – | 4096.3 | 1012 | – | – | – | – | – | – | – | 115.8 | – | – |
| Ferritin (10–291 ng/mL) | – | – | – | – | 899.5 | 458 | – | – | – | – | – | – | – | 74.7 | – | – |
| 25OHD (30–100 ng/ml) | – | – | – | – | 16.9 | 16.3 | – | – | – | – | – | – | – | 44.1 | – | – |
D, days ;ALT, alanine transaminase; AST, aspartate transaminase; GGT, gamma-glutamyl transpeptidase; ALP, alkaline phosphatase; TP, total protein; ALB, albumin; GLB, globulin; Tbil, total bilirubin; Dbil, direct bilirubin; Ibil, indirect bilirubin; TBA, total bile acids; AFP, alpha-feto protein; 25-OH-VitD3,25-hydroxyvitamin D3; –, not tested.
∆Within brackets behind the relevant indices were their reference ranges.▲The Tbil reference range after 3 weeks of life. In full-term baby, the Tbil upper limit in the first 1–4 days were 85, 145, 190, and 215 μmol/L, respectively; and in the 5–7 days of life, 225 μmol/L. Tbil should subside to normal range within 3 weeks of life.▼The AFP reference range for childhood and adulthood period.