Clinical and ABCB11 profiles in Korean infants with progressive familial intrahepatic cholestasis

Table 1 Clinical, laboratory findings and mutations of five infants with progressive familial intrahepatic cholestasis

Patient	Sex	Age of symptom onset	Age at LTx	Associated sign	AST/ALT (IU/L)(0-37/0-41)	T/D. bil (mg/dL)(0-1.2/0-0.5)	GGT (IU/L)(6-71)	AFP (ng/mL)(0-7.0)	Mutations of ABCB11
1	F	20 d	24 mo	Gallstone, HCC	602/242	11.3/7.9	29	3070	S226L/
									G1003R
2	F	9 mo	10 yr	Gallstone	178/242	8.2/5.2	25	< 5	G776R
3	M	5 d	6 mo	-	416/93	35.1/14	25	21500	No
4	M	1 mo	3.5 mo	-	1467/250	44.5/25.1	50	-	No
5	M	2 mo	-	-	951/677	14.3/8.0	52	770000	No

LTx: Liver transplantation; T/D.bil: Total bilirubin/direct bilirubin; GGT: γ-glutamyl transpeptidase (normal values in brackets; Laboratory values were obtained at initial visits of five cases).