Last reviewed: June 2020
Last updated: March  2018

Summary

Definition

History and exam

Other diagnostic factors

  • dark urine
  • bruising
  • hepatomegaly
  • ascites

Risk factors

  • genetic predisposition
  • immune dysregulation
  • viral infection
  • environmental or behavioral exposures
  • maternal DM

Diagnostic investigations

1st investigations to order

  • serum total and conjugated bilirubin
  • newborn screen (includes tests for galactosemia, thyroid dysfunction, cystic fibrosis, and a variety of metabolic diseases)
  • prothrombin time (PT), INR
  • CBC with differential
  • serum AST, ALT, ALP, and gamma-GT
  • abdominal ultrasound
More 1st investigations to order

Investigations to consider

  • hepatobiliary scintigraphy (technetium Tc 99m-di-isopropyl-acetanilido-imino-diacetic acid scan)
  • liver biopsy
  • cholangiogram
  • ERCP
  • CXR
  • infection screen: blood and urine cultures +/- spinal fluid testing
  • urine PCR for CMV
  • plasma or serum amino acids
  • alpha-1 level and protease inhibitor (Pi) type
  • random serum cortisol
  • urinary organic acids
  • urinary succinyl acetone
  • urinary bile acids
  • serum lactate/pyruvate ratio
More investigations to consider

Treatment algorithm

Contributors

Administrative Director

GI Clinical Research

The Children's Hospital of Philadelphia

Philadelphia

PA

Disclosures

JE receives payment for contributions to UpToDate.

Professor of PediatricsĀ 

Department of Pediatrics

The Children's Hospital of Philadelphia

Philadelphia

PA

Disclosures

KL receives payment for contributions to UpToDate and Wolters Kluwer. KL is a consultant for Albireo Pharmaceuticals and Mirum Pharmaceuticals.

Dr Jessi Erlichman and Dr Kathleen Loomes would like to gratefully acknowledge Dr Jonathan A. Flick and Dr Barbara A. Haber, previous contributors to this topic.

Peer reviewersVIEW ALL

Director

Pediatric Hepatology Center

Visiting Professor of Pediatrics

University of Pittsburgh

Pediatric Hepatology Center

Pittsburgh

PA

Disclosures

BLS has received research funding from, and been a consultant to, several pharmaceutical companies that make antibiotic agents that might be used for treating bacterial prostatitis.

Former Professor of Paediatric Surgery

University of Otago

Dunedin

New Zealand

Disclosures

MDS declares that he has no competing interests.

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