Clinical, genetic and functional perspectives on ATP-binding cassette subfamily B member 4 variants in five cholestasis adults

Table 1 Clinical features of five patients and the corresponding ATP-binding cassette subfamily B member 4 mutations

No.	Gender	Age at first presentation	Clinical manifestation	Biochemical examination, (maximal value)	Abdominal enhanced, CT scan	MRCP	Pathological features1	Pathological score	CK7	IHC5	Therapy	Outcome on 2024
1	M	24	Haematemesis, Hematochezia, Cholelithiasis	TB 175, ALT 512, ALP 883, GGT 713, TBA 54	Liver cirrhosis, Megalosplenia, ascites	Cholecystitis, Cholelithiasis, Choledocholithiasis	Ductopenia, cholestasis, hepatic fibrosis	G1S4	(+)	Normal	UDCA, transmetil, glycyrrhein	Died
2	M	21	Scleral icterus, Hepatic dysfunction	TB 29, ALT 159, ALP 346, GGT 1016, TBA 59	Cholecystitis, splenomegaly	Intrahepatic bile duct dilatation	Bile duct hyperplasia	G2S2	(-)	Normal	UDCA, transmetil, Fenofibrate, glycyrrhein	Alive
3	M	18	Hepatic dysfunction, Pruritus, Cholestasis	TB 26, ALT 117, ALP 163, GGT 321, TBA 48	Cholangiectasis	Cholangiectasis	Bridging fibrosis, Ductopenia	G1S3	(+)	Decrease	UDCA, transmetil, glycyrrhein	Alive
4	M	31	Hepatic dysfunction, abdominal distention, jaundice	TB 7, ALT 80, ALP 139, GGT 309	Hepatic cyst, splenomegaly	/	/	/	/	/	UDCA, transmetil, glycyrrhein	Alive
5	F	38	Hepatic dysfunction, abdominal distention, edema	TB 72, ALT 52, ALP 528, GGT 233, TBA 257	Splenectomy, Esophageal and gastric varices, liver cirrhosis	Mild dilation of bile duct	Ductopenia, portal inflammation	G2S4	(+)	Decrease	UDCA, Transmetil, glycyrrhein	Alive

¹It represents the hematoxylin-eosin staining characteristics of liver biopsy.

Reference value: Total bilirubin 3-19 μmol/L, glutamic pyruvic transaminase: 5-40 U/L, aspartate aminotransferase: 5-40 U/L, alkaline phosphatase: 35-135 U/L, GGT: 0-50 U/L, TBA: 0-13 μmol/L. The pathological diagnosis was based on the Scheuer score. ALP: Alkaline phosphatase; ALT: Glutamic pyruvic transaminase; GGT: Glutamyl transpeptidase; TB: Total bilirubin; TBA: Total bile acids; CK7: Cytokeratin 7; IHC: Immunohistochemistry; UDCA: Ursodeoxycholic acid; CT: Computed tomography; MRCP: Magnetic resonance cholangiopancreatography; M: Male; F: Female; /: No data.