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[Acute liver failure related to inherited metabolic diseases in young children]

Filipa Dias Costa1, Rita Moinho1, Sandra Ferreira2

  • 1Serviço de Cuidados Intensivos Pediátricos, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.

Anales De Pediatria
|April 16, 2017
PubMed

Insights

Inherited metabolic diseases (IMD) are a frequent cause of pediatric acute liver failure (ALF). Early identification of IMD in infants with ALF is crucial for timely intervention and improved outcomes.

Area of Science:

  • Pediatric Hepatology
  • Medical Genetics
  • Neonatal Intensive Care

Background:

  • Pediatric acute liver failure (ALF) from inherited metabolic diseases (IMD) is rare but life-threatening.
  • Early diagnosis and intervention are critical for improving outcomes in affected infants.

Purpose of the Study:

  • To characterize the clinical presentation, diagnostic investigations, and outcomes of ALF in young children attributed to IMD.
  • To identify key features that aid in the early suspicion of IMD as a cause of pediatric ALF.

Main Methods:

  • Retrospective review of medical records for children under 24 months with ALF and a confirmed metabolic etiology.
  • Analysis of clinical signs, laboratory findings, and patient outcomes over a 27-year period.

Main Results:

  • Out of 34 ALF cases, 18 were linked to IMD, including galactosemia, mitochondrial DNA depletion syndrome (MDS), and ornithine transcarbamylase deficiency.
  • Common signs included hepatomegaly, jaundice, and encephalopathy; characteristic lab findings involved elevated INR, lactate, bilirubin, ALT, and ammonia.
  • The mortality rate for ALF due to IMD was 44%, with one liver transplant performed for MDS.

Conclusions:

  • Identifying IMD as a significant cause of pediatric ALF enables targeted therapies and family counseling.
  • Specific clinical presentations and moderate elevations in ALT and bilirubin levels can prompt suspicion for IMD.
Abstract

Keywords:
Acute liver failureEnfermedades metabólicas hereditariasFallo hepático agudoInherited metabolic diseasesPediatricPediátrico

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