Progressive familial intrahepatic cholestasis — farnesoid X receptor deficiency due to NR1H4 mutation: A case report

Table 1 Summary of laboratory data

Serum analyte	Reference range	Age 7 wk (presentation)	Age 22 wk (before liver transplantation)
Hematocrit (%)	33.0-39.0	29.2	29.6
Hemoglobin (g/dL)	10.5-13.5	10.1	10.1
White-cell count (per mm3)	6.0-17.5	9.1	11.4
Platelet count (per mm3)	150-400	184	154
Total bilirubin (mg/dL)	0.0-1.0	9.4	23.8
Direct bilirubin (mg/dL)	0.0-0.4	7.3	14.0
ALT (U/L)	10-55	170	224
AST (U/L)	10-55	260	456
GGT (U/L)	10-80	35	41
Alkaline phosphatase (U/L)	15-350	331	356
Bile acids (mol/L)	0-11	69	157
Cholesterol (mg/dL)	80-170	228	220
Triglycerides (mg/dL)	50-150	136	137
Creatine kinase (U/L)	60-400	30
Activated partial-thromboplastin time (s)	21-33	49	59
Prothrombin time (s)	10-13	17	20
International normalized ratio	< 1.2	1.50	2.03
D-dimer	< 500	138	274
Fibrinogen	150-400	200	174
Factor V (%)	70-140	70.4	-
Factor VII (%)	70-120	36.9	-
Ammonia (g/dL)	12-48	178	243
Glucose (mg%)	70-110	55	30
Creatinine (mg/dL)	0.3-1.0	0.2	0.2
Protein (g/L)	60-83	45	55
Albumin (g/L)	33-50	25	34
Globulin (g/L)	26-41	7	14
Immunoglobulin G (mg/dL)	231-1411	713	-
Immunoglobulin A (mg/dL)	0-83	21	-
Immunoglobulin M (mg/dL)	0-145	79	-
1Alpha-fetoprotein (IU/mL)		358000	230000
Vitamin A (ng/mL)	200-800	165	-
Vitamin E (g/mL)	3.8-16.0	8.4	-
25OHD3 (ng/mL)	11-54	26	-

¹Alpha-fetoprotein normal values according to age: Premature 95000-175000; term newborn 13000-83000; 2 wk-1 mo 20-19000; 3 mo 10-180; 8 mo 0-10.

ALT: Alanine aminotransferase; AST: Aspartate aminotransferase; GGT: Gamma-glutamyl transpeptidase.