Neonatal Cholestasis: Updates on Diagnostics, Therapeutics, and Prevention.

Cholestatic jaundice is a common presenting feature of hepatobiliary and/or metabolic dysfunction in the newborn and young infant. Timely detection of cholestasis, followed by rapid step-wise evaluation to determine the etiology, is crucial to identify those causes that are amenable to medical or surgical intervention and to optimize outcomes for all infants. In the past 2 decades, genetic etiologies have been elucidated for many cholestatic diseases, and next-generation sequencing, whole-exome sequencing, and whole-genome sequencing now allow for relatively rapid and cost-effective diagnosis of conditions not previously identifiable via standard blood tests and/or liver biopsy. Advances have also been made in our understanding of risk factors for parenteral nutrition-associated cholestasis/liver disease. New lipid emulsion formulations, coupled with preventive measures to decrease central line-associated bloodstream infections, have resulted in lower rates of cholestasis and liver disease in infants and children receiving long-term parental nutrition. Unfortunately, little progress has been made in determining the exact cause of biliary atresia. The median age at the time of the hepatoportoenterostomy procedure is still greater than 60 days; consequently, biliary atresia remains the primary indication for pediatric liver transplantation. Several emerging therapies may reduce the bile acid load to the liver and improve outcomes in some neonatal cholestatic disorders. The goal of this article is to review the etiologies, diagnostic algorithms, and current and future management strategies for infants with cholestasis.

Informations de copyright

Copyright © 2021 by the American Academy of Pediatrics.

Déclaration de conflit d'intérêts

AUTHOR DISCLOSURE Dr Feldman works under Agency for Healthcare Research and Quality grant K08 HS026510. Dr Sokol has consulted with Mirum Pharma, Albireo Pharma, Alexion, and Retrophin and works under National Center for Advancing Translational Sciences grant UL1 TR002535 and National Institute of Diabetes and Digestive and Kidney Diseases grant U01 DK062453. This commentary does not contain a discussion of an unapproved/investigative use of a commercial product/device.