Table 3 Initial and pre-transplantation/pre-death laboratory testing of our 3 patients with NR1H4-related cholestasis
From: NR1H4 disease: rapidly progressing neonatal intrahepatic cholestasis and early death
ID | Patient 1 | Patient 2 | Patient3 | |||
|---|---|---|---|---|---|---|
Time to evaluation | Initial visit | Before LT | Initial visit | Before death | Initial visit | Before death |
Serum biochemistry (reference range) | ||||||
Total bilirubin (5.1–17.1 umol/l) | 180 | 189 | 348 | 273 | 304 | 278 |
Direct bilirubin (0–6 umol/l) | 118 | 126 | 236 | 209 | 235 | 233 |
Alanine aminotransferase (0–40 IU/L) | 117 | 95 | 270 | 227 | 259 | 260 |
Aspartate aminotransferase (0–40 IU/L) | 211 | 131 | 473 | 363 | 445 | 427 |
γ-glutamyl transferase (7-50IU/L) | 26 | 33 | 45 | 40 | 43 | 40 |
Total bile acid (0-10umol/l) | 21 | 81 | 243 | 132 | 235 | 296 |
Albumin (35–55 g/l) | 33 | 43 | 43 | 31 | 35 | 34 |
Triglyceride (0.56–1.7 mmol/l) | 0.24 | n.a. | 0.75 | 0.77 | 0.70 | 0.74 |
Total cholesterol (3.1-5.2mmol/l) | 2.42 | n.a. | 3.65 | 3.95 | 4.35 | 3.10 |
25-hydroxyvitamin D3 (0–20 ng/ml) | 6.07 | n.a. | 7.08 | n.a. | 12.14 | n.a. |
Alpha-fetoprotein (0-3.7 ng/ml) | > 121,000 | n.a. | > 121,000 | n.a. | >121,000 | n.a. |
Ammonia (10–47 umol/l) | 73 | 63 | 115 | 93 | 93 | 131 |
Blood coagulation (reference range) | ||||||
Platelets(×10^9/L) | 413 | 342 | 170 | 180 | 335 | 399 |
Prothrombin time (12.0–14.8 s) | 21.1 | 22.2 | 23.8 | 24.4 | 21.5 | 25.2 |
International normalized ratio (0.8–1.2 s) | 1.78 | 1.91 | 2.10 | 2.20 | 1.85 | 2.25 |