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Table 1 Clinical information of the 13 new PFIC3 patients

From: Clinical and genetic characterization of pediatric patients with progressive familial intrahepatic cholestasis type 3 (PFIC3): identification of 14 novel ABCB4 variants and review of the literatures

Patient

No

Sex

Family history

Age at

onset

Clinical presentations

Age

Anthropometry and laboratory changes at first referral

Pathologic Features

Outcomes at the last follow up

Wt

(kg)

Ht

(cm)

ALT

AST

GGT

TBIL

DBIL

TBA

25(OH)D

1

Female

No

4.2Y

Pruritus, splenomegaly, hepatomegaly, jaundice

5Y

17

(− 0.6SD)

105

(− 1.2SD)

277

232

589

48.8

32.9

88.3

4.87

NA

Aged 8Y, awaiting LT

2

Female

Elder sister of patient 3

10.8Y

Jaundice, hepatomegaly, splenomegaly, gastrointestinal bleeding, portal hypertension

11.3Y

NA

NA

63

149

302

115.4

109.4

125.3

NA

NA

Died of liver failure at the age 12Y

3

Male

Younger brother of patient 2

7.2Y

Hepatomegaly, splenomegaly

8.5Y

27.5

(− 0.3SD)

131

(− 0.3SD)

109

88

95

3.7

2

7.5

NA

NA

Loss of follow-up

4

Female

No

3Y

Hepatomegaly, splenomegaly, failure to thrive

6.7Y

17

(− 2.8SD)

109

(− 2.9SD)

83

56

72

15.5

6.6

93

28

Nodular cirrhosis

Aged 9Y, alive

5

Female

Elder sister and brother died of liver failure

1 M

Jaundice, hepatomegaly

2 M

5.7

(+ 0.8SD)

58.8

(+ 0.6SD)

43

35

637

67.2

20

154.4

20.7

NA

Aged 4 M, alive

6

Male

Elder brother with PFIC3, LT at 9y because of liver failure

3D

Jaundice, hepatomegaly, splenomegaly, pruritus

6Y

23.5

(+ 0.8SD)

116

(− 0.4SD)

381

173

307

222

100.8

63.3

5.36

NA

Aged 7Y, alive

7

Female

Elder sister died of intracranial hemorrhage

6 M

Hepatomegaly, splenomegaly, jaundice

8 M

7.5

(-1.3SD)

68

(-1.5SD)

120

175

108

67.3

56.4

280.2

NA

NA

Aged 1.3Y, alive

8

Male

No

1Y

Hepatomegaly

1.6Y

12.5

(+ 0.9SD)

80.4

(-0.7SD)

184

130

102

6.1

3.8

98.6

27.6

NA

Aged 2Y, alive

9

Female

No

3Y

Hepatomegaly, splenomegaly, jaundice, discolored stools

3Y

12.5

(− 1.3SD)

94

(− 0.4SD)

186

207

202

17.1

3.6

148.2

NA

NA

Aged 5.1Y, alive

10

Male

Elder brother died of liver failure

6.2Y

Hepatomegaly, splenomegaly

6.2Y

21.8

(− 0.5SD)

115.6

(+ 0.2SD)

127

125

354

11.7

6.5

22.2

NA

NA

Aged 8.3Y, alive

11

Male

Mother with intrahepatic biliary stones. Elder brother and sister died of liver failure

5Y

Pruritus, hepatomegaly, splenomegaly, failure to thrive

6Y

16.1

(− 2.8SD)

106.5

(− 2.5SD)

228

99

136

21.6

7.4

276

NA

Liver fibrosis

Aged 9.4Y, alive

12

Male

No

10 M

Jaundice, hepatomegaly, splenomegaly

2.5Y

14

(− 0.4SD)

95

(− 1SD)

30

85

206

50.1

17.1

114.5

NA

NA

Loss of follow-up

13

Male

Mother with ICP

4.3Y

Hepatomegaly, splenomegaly, pruritus

5Y

18

(− 0.5SD)

107

(− 1SD)

156

145

197

12.9

8.3

108.6

NA

Ductal proliferation and inflammatory infiltration

Aged 5.4Y, alive

  1. Reference ranges: ALT: (5–40U/L); AST: (5–40U/L); GGT: (8–50U/L); Tbil: (5.1–23 μmol/L); Dbil: (0.6–6.8 μmol/L); TBA: (0–10 μmol /L); 25(OH)D: (≥ 20 ng/ml). Among the five patients with 25(OH)D analyzed, two exhibited vitamin D deficiency(< 20 ng/ml)
  2. Y year; M month; D day; ICP intrahepatic cholestasis of pregnancy; Wt weight; Ht height; ALT alanine aminotransferase; AST aspartate aminotransferase; GGT γ-glutamyl transpeptidase; Tbil total bilirubin; Dbil direct bilirubin; TBA total bile acids; 25(OH)D 25-hydroxyvitamin D; NA not available; LT liver transplantation.
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172