Case Report

JIMD Reports - Case and Research Reports, 2012/1

Volume 4 of the series JIMD Reports pp 5-11

Date:

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

  • Elisabeth De GreefAffiliated withDepartment of Gastroenterology, The Children’s Hospital at Westmead (CHW)
  • , John ChristodoulouAffiliated withGenetic Metabolic Disorders Service, The Children’s Hospital at Westmead (CHW)Discipline of Paediatrics and Child Health, University of Sydney
  • , Ian E AlexanderAffiliated withGenetic Metabolic Disorders Service, The Children’s Hospital at Westmead (CHW)Discipline of Paediatrics and Child Health, University of Sydney
  • , Albert ShunAffiliated withAustralian National Liver Transplant Unit (ANLTU), Royal Prince Alfred Hospital
  • , Edward V O’LoughlinAffiliated withDepartment of Gastroenterology, The Children’s Hospital at Westmead (CHW)
  • , David R ThorburnAffiliated withMurdoch Children’s Research Institute, Royal Children’s HospitalDepartment of Paediatrics, University of Melbourne
  • , Vicki JermynAffiliated withDepartment of Gastroenterology, The Children’s Hospital at Westmead (CHW)
  • , Michael O StormonAffiliated withDepartment of Gastroenterology, The Children’s Hospital at Westmead (CHW)Discipline of Paediatrics and Child Health, University of SydneyAustralian National Liver Transplant Unit (ANLTU), Royal Prince Alfred Hospital Email author 

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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.