Mitochondrial hepatopathies: Advances in genetics and pathogenesis
Hepatic involvement is a common feature in childhood mitochondrial hepatopathies, particularly in the neonatal period. Respiratory chain disorders may present as neonatal acute liver failure, hepatic steatohepatitis, cholestasis, or cirrhosis with chronic liver failure of insidious onset. In recent...
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my.um.eprints.108762019-11-19T08:28:44Z http://eprints.um.edu.my/10876/ Mitochondrial hepatopathies: Advances in genetics and pathogenesis Lee, Way Seah Sokol, Ronald J. R Medicine RJ Pediatrics Hepatic involvement is a common feature in childhood mitochondrial hepatopathies, particularly in the neonatal period. Respiratory chain disorders may present as neonatal acute liver failure, hepatic steatohepatitis, cholestasis, or cirrhosis with chronic liver failure of insidious onset. In recent years, specific molecular defects (mutations in nuclear genes such as SCO1, BCS1L, POLG, DGUOK, and MPV17 and the deletion or rearrangement of mitochondrial DNA) have been identified, with the promise of genetic and prenatal diagnosis. The current treatment of mitochondrial hepatopathies is largely ineffective, and the prognosis is generally poor. The role of liver transplantation in patients with liver failure remains poorly defined because of the systemic nature of the disease, which does not respond to transplantation. Prospective, longitudinal, multicentered studies will be needed to address the gaps in our knowledge in these rare liver diseases. (HEPATOLOGY 2007;45:1555–1565.) Wiley 2013 Article PeerReviewed application/pdf en http://eprints.um.edu.my/10876/1/Mitochondrial_hepatopathies.pdf Lee, Way Seah and Sokol, Ronald J. (2013) Mitochondrial hepatopathies: Advances in genetics and pathogenesis. Hepatology, 45 (6). pp. 1555-1565. ISSN 0270-9139 https://doi.org/10.1002/hep.21710 doi:10.1002/hep.21710 |
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R Medicine RJ Pediatrics Lee, Way Seah Sokol, Ronald J. Mitochondrial hepatopathies: Advances in genetics and pathogenesis |
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Hepatic involvement is a common feature in childhood mitochondrial hepatopathies, particularly in the neonatal period. Respiratory chain disorders may present as neonatal acute liver failure, hepatic steatohepatitis, cholestasis, or cirrhosis with chronic liver failure of insidious onset. In recent years, specific molecular defects (mutations in nuclear genes such as SCO1, BCS1L, POLG, DGUOK, and MPV17 and the deletion or rearrangement of mitochondrial DNA) have been identified, with the promise of genetic and prenatal diagnosis. The current treatment of mitochondrial hepatopathies is largely ineffective, and the prognosis is generally poor. The role of liver transplantation in patients with liver failure remains poorly defined because of the systemic nature of the disease, which does not respond to transplantation. Prospective, longitudinal, multicentered studies will be needed to address the gaps in our knowledge in these rare liver diseases. (HEPATOLOGY 2007;45:1555–1565.) |
format |
Article |
author |
Lee, Way Seah Sokol, Ronald J. |
author_facet |
Lee, Way Seah Sokol, Ronald J. |
author_sort |
Lee, Way Seah |
title |
Mitochondrial hepatopathies: Advances in genetics and pathogenesis |
title_short |
Mitochondrial hepatopathies: Advances in genetics and pathogenesis |
title_full |
Mitochondrial hepatopathies: Advances in genetics and pathogenesis |
title_fullStr |
Mitochondrial hepatopathies: Advances in genetics and pathogenesis |
title_full_unstemmed |
Mitochondrial hepatopathies: Advances in genetics and pathogenesis |
title_sort |
mitochondrial hepatopathies: advances in genetics and pathogenesis |
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Wiley |
publishDate |
2013 |
url |
http://eprints.um.edu.my/10876/1/Mitochondrial_hepatopathies.pdf http://eprints.um.edu.my/10876/ https://doi.org/10.1002/hep.21710 |
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