Table 2.

Case series of 10 children with Alagille syndrome

Patient	Age(m)/ Gender	Weight percentiles at birth	Organs involved	Liver function						TC (mmol/L) (3.36–5.69)	Liver biopsy	Genetic variation
				ALT (U/L) (0–40)	AST (U/L) (5–34)	GGT (U/L) (9–64)	TBil (umol/l) (3.4–20.5)	DB (umol/l) (0–8.6)	TBA (umol/l) (0.5–10.0)
1	1/F	50th	cholestasis, hepatomegalyaortic dysplasia butterfly vertebraerenal parenchymal roughness	137	154	177	146.8	120.6	99.5	6.11	N	NOTCH2
2	2/M	< 3rd	cholestasis, hepatomegaly supravalvular aortic stenosis butterfly vertebrae facial features	88	211	1139	127.7	104.3	105.4	6.25	N	JAG1
3	2/M	< 3rd	cholestasis, hepatomegaly pulmonary artery stenosis facial features renal parenchymal roughness	439	576	34	181.1	141.0	123.8	4.25	intrahepatic bile duct paucity. giant cell hepatitis	JAG1
4	72/M	10-25th	hepatic dysfunction facial features butterfly vertebrae hydronephrosis of the left kidney	98	86	117	6.2	2.4	6.7	3.64	N	JAG1
5	4/M	< 3rd	cholestasis, hepatomegaly atrial septal defect facial features	54	117	613	160.7	135.3	481.2	7.48	N	JAG1
6	3/M	3-10th	cholestasis, hepatomegaly ventricular septal defect facial features epilepsy	253	347	106	130.7	110.2	135.5	4.05	N	JAG1
7	1/M	50th	cholestasis, hepatomegaly pulmonary artery stenosis	37	63	157	106.7	48.7	159.9	7.65	ductular proliferation. lymphocytic infiltration in portal area;mild fibrosis; no bile plugs	JAG1
8	3/F	50th	hepatic dysfunction facial features	552	250	746	18.1	13.7	32.4	6.05	N	JAG1
9	6/M	25-50th	cholestasis, hepatomegaly facial features	41	69	269	146.8	83.4	92.1	5.99	N	JAG1
10	1/M	50-75th	cholestasis, acholic stool Common bile duct dysplasia, pulmonary artery stenosis, butterfly vertebrae	217	230	625	183.6	148.3	115.9	4.41	N	JAG1

abbreviations’ footnote: m Months, ALT Alanine transaminase, AST Aspartate transaminase, GGT Gamma-glutamyltranspeptidase, TBil Serum total bilirubin, DB Direct bilirubin, TBA Total bile acid, TC Total cholesterol, N No liver biopsy was performed