Cholestasis In Infants With Down Syndrome Is Not Due To Extrahepatic Biliary Atresia: A Ten-Year Single Egyptian Centre Experience

Figures & data

Figure 1 Flowchart of studied cohort of neonates and infants with Down syndrome and cholestasis.

Table 1 Clinical Findings In Down Syndrome Cohort With Cholestasis

		Number Of Affected Children	Percent
Vomiting	Present	2	3.6
	Absent	53	96.4
Diarrhea	Present	1	1.8
	Absent	54	98.2
Abdominal Distension	Present	22	40
	Absent	3	5.5
Sepsis	Present	1	1.8
	Absent	54	98.2
Dark Urine	Present	25	45.5
	Absent	30	54.5
Clay-Colored Stools	Present	8	14.5
	Absent	47	85.5
Pruritus	Present	6	10.9
	Absent	49	89.1
Scratch Marks	Present	7	12.7
	Absent	48	87.3
Hepatomegaly	Present	20	36.36
	Absent	35	63.6
Splenomegaly	Present	22	40
	Absent	33	60
Cardiac Anomalies	PFO	3	5.5
	ASD	3	5.5
	VSD	2	3.6
	Combined ASD + VSD	6	10.9
	Total	14	25.5
	Absent	41	74.5

Table 2 Laboratory And Liver Biopsy Findings In Down Syndrome Cohort With Cholestasis

Laboratory Findings
		Range	Mean ± SD
Total bilirubin (mg%)		4–10.7	6.48± 1.81
Direct bilirubin (mg%)		3–9.7	4.1± 1.67
ALT		0.65–18.15	5.45± 3.99
AST		0.97–26.21	7.55± 5.14
Liver Biopsy Findings in 32 Children
		Number	Percent
Hepatocytes	Normal	7	21.9
	Diffuse Ballooning	25	78.1
Infiltration by Inflammatory Cells	Present	28	87.5
	Absent	4	12.5
Bile Duct Proliferation	Present	23	71.8
	Absent	9	28.1
Paucity of Intrahepatic Biliary Radicals	Present	18	56.26
	Absent	14	43.75
Kupffer Cells (Stellate Macrophages)	Normal	11	20
	Hyperplastic	21	38.2
Architecture	Intact	32	100
	Distorted	0	0
Fibrosis	Present	2	6.25
	Absent	30	93.75
Hepatic Veins	Normal	5	15.62
	Distended	27	84.37

Note: ALT and AST were calculated in folds of the upper level of normal.

Abbreviations: ALT, alanine aminotransferase; AST, aspartate aminotransferase; Number, number of affected children; SD, standard deviation.

Figure 2 Etiology of Cholestasis in Down syndrome. None had biliary atresia.

Figure 3 The outcome of Cholestasis in Down syndrome. UDCA use was associated with poor outcome (p= 0.000).

Table 3 Outcome And Associated Complications Of The Cohort With Down Syndrome And Cholestasis According To Etiology, UDCA Intake And Association Of Congenital Heart Disease

Outcome					Pvalue
According to Etiology of Cholestasis
			Hepatitis N= 37	PIBD N= 18
Resolved Cholestasis		35	18	17	0.012
Improved		2	2	0
Progression		17	16	1
Death		1	1	0
According to Intake of UDCA
			Received UDCA N= 29	No UDCA N= 26
Resolved Cholestasis		35	13	22	0.016
Improved		2	1	1
Progression		17	14	3
Death		1	1	0
Associated Cardiac Anomaly
			Yes N= 14	None N= 41
Resolved Cholestasis		35	6	29	0.215
Improved		1	1	0
Progression		17	7	10
Death		1	0	1
Complications in Studied Cohort of Down Syndrome					P
		Total	Received UDCA N= 29	No UDCA N= 26
Recurrent Diarrhea	Yes	10	10	0	0.001
	None	45	19	26
	Total	55	29	26
Otitis Media	Yes	2	2	0	0.2
	None	53	27	26
	Total	55	29	26
Pneumonia	Yes	6	6	0	0.016
	None	49	23	26
	Total	55	29	26
Bronchitis	Yes	9	0	9	0.002
	None	20	26	46
	Total	29	26	55
Intractable Pruritus	Yes	1	0	1	0.33
	None	28	26	54
	Total	29	26	55

Note: All neonates with congenital cardiac anomaly had neonatal hepatitis.