Biochemical characteristics of neonatal cholestasis induced by citrin deficiency

Table 1 Differential diagnosis have been excluded

Affecting bile duct	Infectious	Metabolic	Others
Biliary atresia	Herpes viruses	α-1 antitrypsin deficiency	Endocrinological
Choledochal cyst	Rubella virus	Neonatal iron storage disease	Hypothyroidism
Cholelithiasis	Enteroviruses	Amino acid disorders	Panhypopituitarism/septo-optic dysplasia
Inspissated bile	Hepatitis viruses	Tyrosinemia	Genetic
Tumor	Human immunodeficiency virus	Hypermethioninemia	ATP8B1 deficiency
Hemangioma	Syphilis	Mevalonate kinase dificiency	ABCB11 deficiency
Bile duct stenosis/stricture/perforation	Toxoplasmosis	Glucogen storage diseases	ABCB4 deficiency
Neonatal sclerosing cholangitis	Bacterial sepsis	Gaucher disease	Bile acid synthetic defects
Caroli disease	Urinary tract infections	Niemann–Pick disease	Neonatal Dubin–Johnson syndrome
Alagille syndrome		Wolman disease	Various trisomies
		Zellweger syndrome	Arghrogryposis
		Infantile Refsum disease	Hematological
		Mitochondrial disorders	Hemophagocytic lymphohistiocytosis
		Urea cycle disorders	Langerhans cell histiocytosis
			Miscellaneous drug effects
			Total parenteral nutrition

Table 2 Comparison of birth weight, biochemical indices and their ratios among the three groups

	Reference range and unit	BA (n = 39)		INC (n = 39)		NICCD (n = 32)
		Median	Inter-quartile	Median	Inter-quartile	Median	Inter-quartile
Birth weight	2.5-4.0 kg	3.2	2.9-3.8	3.1	2.8-3.5	2.9	2.4-3.4
Biochemical indices
T-Bilac	2-20 mmol/L	159.5	140.2-201.4	133.8	90.0-190.4	112.7	64.4-165.4
D-Bilace	0-6 mmol/L	134	115.9-151.2	87.3	63.0-123.6	59.6	43.1-90.9
ALTce	< 40 IU/L	108	62.0-199.0	84.5	46.0-166.0	34	23.0-55.0
ASTce	< 40 IU/L	153	115.0-239.0	130.5	81.0-223.0	74	53.5-150.0
GGTac	< 50 IU/L	558	300.0-1086.0	155	91.0-294.0	187.5	136.0-253.0
TBAce	< 40 mmol/L	112	84.9-153.9	103	70.9-135.3	177.9	111.2-236.4
Total proteince	55-78 g/L	57.4	55.3-63.1	57.2	52.5-62.8	48.5	44.5-53.9
Albumince	35-55 g/L	38.4	36.3-42.2	39.9	37.0-42.3	34.9	30.7-38.2
Glucosece	3.9-5.9 mmol/L	4.1	3.4-5.1	4	3.4-4.6	3.2	2.0-4.4
TCHce	3.12-5.20 mmol/L	4.57	3.81-5.26	4	3.24-4.74	3.33	2.97-4.00
Ratios
D-Bil/T-Bilace		0.77	0.72-0.81	0.74	0.59-0.80	0.54	0.40-0.74
AST/ALTce		1.38	0.94-1.97	1.48	1.10-2.66	2.46	1.95-3.63
TBA/D-Bilace		0.85	0.72-1.09	1.04	0.92-1.14	3.36	1.98-4.43
D-Bil/TCHac		30.2	22.8-34.0	21.5	16.7-31.2	18.7	13.9-26.6
TBA/TCHce		24.7	19.8-30.2	24.2	21.4-26.9	60.7	32.4-70.9

^aP < 0.05 between BA and INC;

^cP < 0.05 between BA and NICCD;

^eP < 0.05 between INC and NICCD. NICCD: Neonatal intrahepatic cholestasis caused by citrin deficiency; BA: Biliary atresia; INC: Idiopathic neonatal cholestasis; TBA: Total bile acid; T-Bil: Total bilirubin; D-Bil: Direct bilirubin; AST: Aspartate aminotransferase; ALT: Alanine aminotransferase; GGT: γ-glutamyltranspeptidase; TCH: Total cholesterol.