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

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

–