Liver Failure in Early Infancy: Aetiology, Presentation, and Outcome

J Pediatr Gastroenterol Nutr. 2017 Jan;64(1):70-75. doi: 10.1097/MPG.0000000000001202.

Abstract

Objective: Acute liver failure (ALF) in early infancy is rare and challenging to recognize and manage. We aim to describe the presentation and outcome of infants with ALF according to their final aetiology to elucidate features to facilitate early recognition leading to prompt diagnosis and management.

Methods: All infants presenting within 120 days from birth with liver failure were included in a retrospective review over a 19-year period. The aetiology, clinical features, presenting investigations, and outcome were collected.

Results: Seventy-eight young infants presented with ALF. The aetiology was established in 94% and included metabolic disease (36%), hypoxic-ischaemic (HI) insult (19%), infection (17%), neonatal haemochromatosis (9%), and infiltrative disease (9%). Infections, infiltrative disease, and acute HI insult usually resulted in higher transaminases and international normalized ratio, whereas neonatal haemochromatosis and tyrosinaemia were characterized by lower or near normal transaminases. Overall jaundice was not visible in 24% of infants at presentation. Forty-five (58%) infants were alive at discharge from hospital. Survival at 1 year was 53% and survival with native liver 50%. Later deaths occurred in infants with mitochondrial disease. Six infants received a liver transplant and 4 subsequently died from their underlying disease.

Conclusion: ALF should be considered in any young infant with a coagulopathy as transaminases and/or bilirubin levels can be near normal at presentation. Better intensive care and the judicious use of liver transplantation may have contributed to the improved outcomes for this group compared with previous decades.

Publication types

  • Review

MeSH terms

  • Blood Coagulation
  • Female
  • Hemochromatosis / blood
  • Hemochromatosis / complications*
  • Humans
  • Hypoxia
  • Infant
  • Infections / blood
  • Infections / complications*
  • International Normalized Ratio
  • Ischemia / blood
  • Ischemia / complications*
  • Jaundice
  • Liver Failure, Acute / diagnosis
  • Liver Failure, Acute / etiology*
  • Liver Failure, Acute / mortality
  • Liver Failure, Acute / surgery
  • Liver Transplantation
  • Male
  • Metabolic Diseases / blood
  • Metabolic Diseases / complications*
  • Prevalence
  • Retrospective Studies
  • Transaminases / blood*
  • Treatment Outcome
  • Tyrosinemias / complications

Substances

  • Transaminases

Supplementary concepts

  • Neonatal hemochromatosis