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Table 4 Clinical and biochemical data in the individuals with four mutations covering six patients in the NR1H4 gene

From: Identification of two novel pathogenic variants of the NR1H4 gene in intrahepatic cholestasis of pregnancy patients

Characteristics1 Novel-1 (ICP127) Novel-2 (ICP53) rs180957965 (ICP12) rs147030757 (ICP1) rs147030757 (ICP69) rs147030757 (ICP107)
Basic information1
 Age (years) 40 21 30 26 27 27
 Gestational age (weeks) 38 + 5 30 + 1 39 + 6 40 + 3 37 + 6 28
 BMI (kg/m2) 28.2 22 20.4 25.4 24.6 22.2
 Gravidity (times) 6 1 2 1 1 5
 Parity (times) 1 0 0 0 0 4
Serum biochemical index
 K (3.5–5.1, mmol/L) 4.1 4.3 4.2 4 4.2 3.7
 Na (135–145, mmol/L) 137 142 143 135 140 140
 CL (96–108, mmol/L) 105 109 104 102 102 108
 Ca (2.1–2.9, mmol/L) 2.2 2.2 2.14 2.49 2.34 2.4
 Mg (0.6–1.1, mmol/L) 0.8 0.91 0.82 0.74 0.86 0.7
 P (0.85–1.51, mmol/L) 1 0.97 1.13 1.37 1.24 0.9
 WBC (3.69–9.16, × 109/L) 6.45 7.6 17.59 7.61 5.81 5.49
 RBC (3.68–5.13, × 1012/L) 3.8 3.31 3.99 3.86 3.8 3.28
 PLT (101–320, × 109/L) 164 196 294 144 188 238
 RDW-SD (37–54, fL) 51.6 50.4 44.8 57 41.5 43.9
 ALT (0–35, U/L) 198 44 76 12 40 7
 AST (0–35, U/L) 196 53 51 22 40 15
 TBA (0–10, μmol/L) 46.4 113.2 12 18.9 27.5 46.4
 TBIL (3.4–20.5, μmol/L) 31.5 10.1 14 13.6 11.9 9.1
 DBIL (0–5, μmol/L) 22.4 7.2 6 5 2.5 4.5
 IDBIL (0–14, μmol/L) 9.1 2.9 8 8.6 9.4 4.6
 CHOL (0–5.2, mmol/L) 5.79 5.52 5.73 6.21 7.44 6.07
 TG (0.34–1.69, mmol/L) 3.97 2.47 3.13 2.22 4.89 3.17
 HDL (0.9–2, mmol/L) 1.59 1.83 1.6 2.32 2.29 2.27
 LDL (0–3.74, mmol/L) 2.4 2.57 2.71 2.88 2.93 2.36
 UA (155–357, μmol/L) 339 257 348 282 411 131
Outcomes of pregnancy women and newborn baby
 Birth weight (kg) 3.8 3 3.55 3.85
 Apgar score (1–10) 9 8 10 9
 Bleeding count (mL) 400 300 250 350
  1. 1Abbreviations refer to the footnotes in Table 1