TABLE 1.

Clinical and Laboratory Features

Patient	Age at Onset of Signs or Symptoms	Initial Symptoms and Signs	Age at Presentation for Medical Care	Symptoms and Signs at Presentation for Medical Care	Clinical-laboratory Results at Presentation*		Procedure(s); age	Indication	Age at the Last Follow-up
					GGT	ALT
1	16 wk	Jaundice, hepatomegaly, bruising	5 mo	Pruritus, hepatomegaly	14	236	Biliary diversion, 17 mo	Pruritus	41 mo
2	6 mo	Jaundice, pruritus	17 mo	Pruritus	14	145	Ileal exclusion, 13 mo Transplant, 28 mo	Pruritus Continued pruritus	86 mo
3	ND	ND	9 mo	Jaundice, pruritus	14	93	None	NA	30 mo
4	8 wk	Jaundice	8 wk	Jaundice, scleral icterus	39	569	Transplant, 20 mo	Cirrhosis, pruritus	92 mo
5	ND	ND	30 mo	Jaundice, diarrhea	58	199	Transplant, 37 mo	ND	37 mo
6†	1 mo	Jaundice	6 mo	Jaundice, pruritus, failure to thrive, hepatomegaly, scleral icterus	35	959	Biliary diversion, 11 mo Transplant, 16 mo	Pruritus Portal hypertension, coagulopathy, ascites	3 y
7	6 wk	Poor weight gain	13 mo	Intermittent jaundice, intermittent pruritus, hepatosplenomegaly	35	60	Ileal exclusion, 9 y	Pruritus	15 y
8	3 mo	Pruritus	8 mo	Jaundice, pruritus, hepatomegaly, scleral icterus	29	254	Ileal exclusion, 15 mo	Pruritus	65 mo
9	2 mo	Jaundice, scleral icterus	7 y	Pruritus, poor growth, intermittent abdominal pain and distention	19	130	Transplant, 88 mo	Cirrhosis	92 mo
10	8 mo	Jaundice	21 mo	Jaundice, pruritus, poor growth, hepatosplenomegaly	24	164	Biliary diversion, 22 mo	Pruritus	23 mo
11	4 mo	Intracranial hemorrhage	4 mo	Coagulation abnormalities, mild hepatomegaly	19	285	Transplant, 62 mo	Pruritus	70 mo
12	3 mo	Jaundice, pruritus	6 wk	None (affected sibling)	33	259	Transplant, 17 mo	Pruritus	18 mo

^*Expected ranges for these analytes are not provided because they were measured at different institutions and at different times.

^†Patient 6 was included in a recent report of gene mutations in children with cholestasis.¹³

ALT indicates alanine transaminase; GGT, γ-glutamyltransferase; NA indicates not applicable; ND, not determined (unknown).