JIMD Reports - Case and Research Reports, 2012/1 pp 5-11

Part of the JIMD Reports book series (JIMD, volume 4)

Mitochondrial Respiratory Chain Hepatopathies: Role of Liver Transplantation. A Case Series of Five Patients

  • Elisabeth De Greef
  • John Christodoulou
  • Ian E Alexander
  • Albert Shun
  • Edward V O’Loughlin
  • David R Thorburn
  • Vicki Jermyn
  • Michael O Stormon
Case Report

Abstract

Introduction: Orthotopic liver transplantation (OLT) in patients with mitochondrial respiratory chain disorders (MRCD) is controversial because of possible multi-organ involvement.

Aim: To illustrate the clinical diversity of MRCD, the difficulty in making an accurate tissue diagnosis and whether to undertake OLT in five patients with proven MRCD. A review of the reported cases in the literature is presented.

Methods: Retrospective chart review from 1995 to 2007 at a paediatric liver transplant centre where five children with hepatic MRCD were identified.

Results: Patient 1 was transplanted for ‘cryptogenic’ cirrhosis. The diagnosis of MRCD was made on the explant. The patient remains well 5 years after transplant. Patient 2 presented with fulminant liver failure at 3 months of age. Although no extrahepatic manifestations were identified, OLT was not considered. Patient 3 presented with recurrent hypoglycaemia and was transplanted for fulminant hepatic failure at 12 months of age. He died of pulmonary hypertension 9 months post OLT. Patient 4 was diagnosed with MRCD at the age of 2 years. Death occurred at the age of 14 years, while listed for combined liver–kidney transplant, after a stroke-like episode following severe sepsis. Patient 5 developed liver failure after valproic acid was instituted for seizures. Mitochondrial DNA depletion syndrome was diagnosed and transplantation was not offered.

Conclusion: Hepatic MRCD has a variable presentation. Diagnosis requires the measurement of respiratory chain enzymes on tissue from liver biopsy. Whether to proceed to OLT is a difficult decision given a good outcome in a minority of cases, suggesting that MRCD should not be an absolute contraindication to liver transplantation.

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Copyright information

© SSIEM and Springer-Verlag Berlin Heidelberg 2011

Authors and Affiliations

  • Elisabeth De Greef
    • 1
  • John Christodoulou
    • 2
    • 3
  • Ian E Alexander
    • 2
    • 3
  • Albert Shun
    • 4
  • Edward V O’Loughlin
    • 1
  • David R Thorburn
    • 5
    • 6
  • Vicki Jermyn
    • 1
  • Michael O Stormon
    • 1
    • 3
    • 4
  1. 1.Department of GastroenterologyThe Children’s Hospital at Westmead (CHW)WestmeadAustralia
  2. 2.Genetic Metabolic Disorders ServiceThe Children’s Hospital at Westmead (CHW)WestmeadAustralia
  3. 3.Discipline of Paediatrics and Child HealthUniversity of SydneySydneyAustralia
  4. 4.Australian National Liver Transplant Unit (ANLTU)Royal Prince Alfred HospitalCamperdownAustralia
  5. 5.Murdoch Children’s Research InstituteRoyal Children’s HospitalMelbourneAustralia
  6. 6.Department of PaediatricsUniversity of MelbourneMelbourneAustralia

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