Evidence from a familial case suggests maternal inheritance of primary biliary cholangitis

Table 1 Characteristics and initial laboratory findings from the family members

Characteristics (reference ranges)	Patient 1	Patient 2	Patient 3	Patient 4	Brother	Half-sister
Sex, age	F, 56	F, 54	F, 44	F, 38	M, 52	F, 48
Symptom	Fatigue, pruritus	(-)	Fatigue, nausea	(-)	(-)	(-)
Underlying disease	(-)	Thyroid cancer	(-)	(-)	(-)	(-)
AST, IU/L (9-39)	127	29	311	63	16	17
ALT, IU/L (6-45)	160	24	509	90	11	13
Total/direct bilirubin, mg/dL (0.4-1.3/0.1-0.4)	1.0 / 0.3	0.8 /0.2	1.3 / 0.7	0.6 / 0.2	0.5 / 0.2	0.9 / 0.3
ALP, IU/L (35-104)	132	122	122	101	83	58
GGT, IU/L (8-35)	169	63	188	112	14	15
HBs antigen/antibody	(-/+)	(-/+)	(-/-)	(-/+)	(-/+)	Not done
Anti-HCV antibody	(-)	(-)	(-)	(-)	(-)	Not done
Anti-mitochondrial antibody, titer	(+, > 1:1280)	(+, 1:640)	(+, > 1:1280)	(+, 1:640)	(-)	(-)
Anti-smooth muscle antibody	(-)	(-)	(-)	(-)	(-)	(-)
Anti-liver-kidney microsome antibody	(-)	(-)	(-)	(-)	Not done	Not done
Antinuclear antibody	(-)	(-)	(-)	(-)	(-)	(-)
IgG, mg/dL (700-1600)	1630	1150	1790	2070	1130	1210
IgA, mg/dL (70-400)	316	226	362	268	287	177
IgM, mg/dL (40-230)	421	289	542	542	247	94.4

AST: Aspartate aminotransferase; ALT: Alanine aminotransferase; ALP: Alkaline phosphatase; GGT: Gamma-glutamyltranspeptidase; HBs: Hepatitis B surface; HCV: Hepatitis C virus; Ig: Immunoglobulin.