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

Authors Kotb MA, Draz I, Basanti CWS, El Sorogy STM, Abd Elkader HM, Esmat H, Abd El Baky H, Mosallam DS

Received 17 May 2019

Accepted for publication 3 September 2019

Published 22 October 2019 Volume 2019:12 Pages 401—408


Checked for plagiarism Yes

Review by Single-blind

Peer reviewer comments 2

Editor who approved publication: Prof. Dr. Everson L.A. Artifon

Magd A Kotb,1 Iman Draz,1 Christine WS Basanti,1 Sally TM El Sorogy,2 Hesham M Abd Elkader,3 Haytham Esmat,4 Hend Abd El Baky,1 Dalia Sayed Mosallam1

1Pediatrics Department, Faculty of Medicine, Kasr Al Ainy, Cairo University, Cairo, Egypt; 2Pediatrics Department, Public Mounira Hospital, Cairo, Egypt; 3Department of Pediatric Surgery, Faculty of Medicine, Ain Shams University, Cairo, Egypt; 4Department of Pediatric Surgery, Cairo University, Cairo, Egypt

Correspondence: Dalia Sayed Mosallam
Pediatrics Department, Faculty of Medicine, Cairo University, Al Manial, Cairo 11562, Egypt
Tel +20 2 33386592

Purpose: We aimed to define the clinical presentations, course and outcome of cholestasis in infants with Down syndrome (trisomy 21) who presented to the Pediatric Hepatology Clinic, New Children Hospital, Cairo University, Egypt.
Methods: Retrospective analysis of data of cohort of infants with Down syndrome and cholestasis who followed up during 2005–2015.
Results: Among 779 infants with cholestasis who presented during 2005–2015, 61 (7.8%) had Down syndrome. Six dropped out. Among the 55 who followed-up for a mean duration +SD = 12.1 ± 16.7 months, none had extrahepatic biliary atresia (EHBA), 37 (63.3%) had neonatal hepatitis and 18 (32.7%) had non-syndromic paucity of intrahepatic biliary radicals. Fourteen (25.4%) had associated congenital heart disease. Only 35 (63.3%) cleared the jaundice. Twenty-nine (52.7%) received ursodeoxycholic acid (UDCA); of them, 13 cleared the jaundice, one improved, 14 progressed and one died, compared to 22 who cleared the jaundice of the 26 who did not receive UDCA. Only three of those who did not receive UDCA progressed and none died. UDCA carried a 3.4-fold risk of poor prognosis (p= 0.001). UDCA use was associated with more complications (p= 0.016) in those with Down syndrome and cholestasis.
Conclusion: We did not come across EHBA among neonates and infants with Down syndrome in 10 years. Non-syndromic paucity is associated with favorable outcome in infants with Down syndrome. UDCA use in cholestasis with Down syndrome is associated with poor outcome.

Keywords: cholestasis, extrahepatic biliary atresia, EHBA, neonatal hepatitis, Down syndrome, trisomy 21, ursodeoxycholic acid, UDCA

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