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De Greef E, Christodoulou J, Alexander IE, et al. Mitochondrial respiratory chain hepatopathies: role of liver transplantation. A case series of five patients. JIMD Rep. 2011;4:5-11doi: 10.1007/8904_2011_29.
De Greef, E., Christodoulou, J., Alexander, I. E., Shun, A., O'Loughlin, E. V., Thorburn, D. R., Jermyn, V., & Stormon, M. O. (2012). Mitochondrial respiratory chain hepatopathies: role of liver transplantation. A case series of five patients. JIMD reports, 45-11. https://doi.org/10.1007/8904_2011_29
De Greef, Elisabeth, et al. "Mitochondrial respiratory chain hepatopathies: role of liver transplantation. A case series of five patients." JIMD reports vol. 4 (2012): 5-11. doi: https://doi.org/10.1007/8904_2011_29
De Greef E, Christodoulou J, Alexander IE, Shun A, O'Loughlin EV, Thorburn DR, Jermyn V, Stormon MO. Mitochondrial respiratory chain hepatopathies: role of liver transplantation. A case series of five patients. JIMD Rep. 2012;4:5-11. doi: 10.1007/8904_2011_29. Epub 2011 Nov 04. PMID: 23430890; PMCID: PMC3509872.
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JIMD Rep. 2012;4:5-11. doi: 10.1007/8904_2011_29. Epub 2011 Nov 04.

Mitochondrial respiratory chain hepatopathies: role of liver transplantation. A case series of five patients.

JIMD reports

Elisabeth De Greef, John Christodoulou, Ian E Alexander, Albert Shun, Edward V O'Loughlin, David R Thorburn, Vicki Jermyn, Michael O Stormon

Affiliations

  1. Department of Gastroenterology, The Children's Hospital at Westmead (CHW), Hawkesbury Road, Locked Bag 4001, Westmead, 2145, NSW, Australia.

PMID: 23430890 PMCID: PMC3509872 DOI: 10.1007/8904_2011_29

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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