Diagnostic approaches for infants with cholestatic liver diseases: Position paper and perspectives of the Federation of International Societies of Pediatric Gastroenterology, Hepatology, and Nutrition
11
Issued Date
2025-01-01
Resource Type
ISSN
02772116
eISSN
15364801
Scopus ID
2-s2.0-105016793779
Pubmed ID
40977420
Journal Title
Journal of Pediatric Gastroenterology and Nutrition
Rights Holder(s)
SCOPUS
Bibliographic Citation
Journal of Pediatric Gastroenterology and Nutrition (2025)
Suggested Citation
Chen H.L., Taylor S.A., Lee W.S., Ciocca M., El-Guindi M.A., Yachha S.K., Fawaz R., Botero V., Treepongkaruna S., Gonzales E., Hadžić N. Diagnostic approaches for infants with cholestatic liver diseases: Position paper and perspectives of the Federation of International Societies of Pediatric Gastroenterology, Hepatology, and Nutrition. Journal of Pediatric Gastroenterology and Nutrition (2025). doi:10.1002/jpn3.70207 Retrieved from: https://repository.li.mahidol.ac.th/handle/123456789/112328
Title
Diagnostic approaches for infants with cholestatic liver diseases: Position paper and perspectives of the Federation of International Societies of Pediatric Gastroenterology, Hepatology, and Nutrition
Author's Affiliation
Yale School of Medicine
National Taiwan University College of Medicine
King's College Hospital
Menoufia University
University of Colorado Department of Pediatrics
Universiti Tunku Abdul Rahman
Ramathibodi Hospital
Fundación Valle del Lili
Hospital Aleman
Physiopathogénèse et Traitement des Maladies du Foie
Sakra World Hospital
National Taiwan University College of Medicine
King's College Hospital
Menoufia University
University of Colorado Department of Pediatrics
Universiti Tunku Abdul Rahman
Ramathibodi Hospital
Fundación Valle del Lili
Hospital Aleman
Physiopathogénèse et Traitement des Maladies du Foie
Sakra World Hospital
Corresponding Author(s)
Other Contributor(s)
Abstract
Cholestasis in infancy is the most common manifestation of liver disease in children, with some patients progressing to cirrhosis or liver failure necessitating transplantation. Neonatal cholestasis remains a diagnostic challenge, as it requires differentiation of cholestatic infants from a large number of jaundiced newborns with benign causes. The first step is to diagnose patients with biliary atresia (BA) as early as possible to ensure timely surgery-Kasai portoenterostomy (KPE). Universal newborn screening using stool color cards or direct bilirubin measurements have been shown to identify patients before the onset of symptoms. Multiple diagnostic modalities, including clinical history, physical examination, laboratory tests, emerging biomarkers, imaging studies, and liver histopathology, can facilitate the decision for intraoperative cholangiography and potential corrective surgery. Advances in diagnostic testing, particularly genetic sequencing, have greatly enhanced our ability to evaluate and manage infants with cholestasis. Given highly variable resources and access to these new diagnostic modalities, local flexibility and adaptability should be implemented within each institution and medical care system to foster seamless collaboration between primary care physicians and specialized centers with expertise in genetic diagnosis, KPE, and liver transplantation. This report provides updates on the evaluation of neonatal cholestasis, including insights into screening, diagnosis, and genetic testing, along with future perspectives.