Clinical and genetic study of ABCB4 gene-related cholestatic liver disease in China: children and adults

Cao, Lili; Ling, Xiuxin; Yan, Jianguo; Feng, Danni; Dong, Yi; Xu, Zhiqiang; Wang, Fuchuan; Zhu, Shishu; Gao, Yinjie; Cao, Zhenhua; Zhang, Min

doi:10.1186/s13023-024-03179-w

Orphanet Journal of Rare Diseases

Table 1 Characteristics of liver histopathology and immunohistochemical staining in 23 patients with ABCB4 gene-related cholestatic liver disease

From: Clinical and genetic study of ABCB4 gene-related cholestatic liver disease in China: children and adults

Group	Patient NO	Bile duct injury	Fibrosis of the sink area	Megakaryocyte	Grade (G) Fibrosis (S)	CK7	CU
Child	1	Small bile duct hyperplasia	YES	NO	G2S4	YES	+
	2	Small bile duct hyperplasia	YES	NO	G2S4	YES	+
	3	No obvious abnormalities in the small bile duct	NO	YES	G1–2S1–2	NO	–
	3	Interlobular bile duct stenosis and small bile duct hyperplasia	YES	NO	G2S4	YES	+
	4	Interlobular bile duct hyperplasia, lumen irregular narrowing, bile duct epithelial atrophy, vacuolation, loss	YES	NO	G2S2	YES	–
	5	Edema of the interlobular bile duct epithelium, hyperplasia of the bile duct with small vacuoles	YES	NO	G1–2S4	YES	–
	5	Stenosis of the interlobular bile duct and hyperplasia of the small bile duct	YES	NO	G2S2	YES	–
	6	Small bile duct hyperplasia	YES	NO	G2S3	YES	–
	7	No obvious abnormalities in the small bile duct	YES	NO	G1–2S4	NO	–
	8	Interlobular bile duct lumen stenosis and occlusion, bile duct epithelialization vacuolation, small bile duct hyperplasia	YES	NO	G2S2	YES	–
	9	NA
	10	NA
	11	Biliary lumen stenosis and atresia were accompanied by fibrosis and sclerosis. The small biliary duct hyperplasia was obvious and eroded the boundary plate	YES	NO	G2S4	YES	++
	12	NA
	13	The lumen of the interlobular bile duct is irregular and narrow, and the small bile duct is hyperplasia	YES	NO	G2S4	YES	+
	14	NA
	15	No obvious abnormalities in the small bile duct	YES	NO	G1S1	NO	–
Adult	16	Small bile duct hyperplasia	YES	NO	G1S4	YES	–
	17	Small bile duct hyperplasia	YES	NO	G2S4	YES	+
	18	NA	YES	NO	G2S4	NA	NA
	18	Small bile duct hyperplasia	YES	NO	G1S2	YES	+
	19	Reduced interlobular bile duct, bile duct epithelium injury, small bile duct hyperplasia	YES	NO	G2S1	YES	–
	19	The epithelium of the interlobular bile duct was atrophic and lost, typical interlobular bile duct was rare, and small bile duct hyperplasia was obvious	YES	NO	G2S2	YES	–
	20	Small bile duct hyperplasia	YES	NO	G2S4	YES	–
	21	Small bile duct hyperplasia	YES	NO	G3S4	YES	–
	22	Ductopenia	YES	NO	G1S3–4	YES	+
	23	The epithelium of the interlobular bile duct is atrophic and absent, and the small bile duct is hyperplasia	YES	NO	G1S2	YES	–

NA not available, − negative, + positive, ++ Strongly positive, CU copper staining

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ISSN: 1750-1172

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