Alpers-Huttenlocher Syndrome First Presented with Hepatic Failure: Can Liver Transplantation Be Considered as Treatment Option? / 대한소아소화기영양학회지
Pediatric Gastroenterology, Hepatology & Nutrition
; : 259-262, 2017.
Article
em En
| WPRIM
| ID: wpr-128994
Biblioteca responsável:
WPRO
ABSTRACT
Mitochondria play essential role in eukaryotic cells including in the oxidative phosphorylation and generation of adenosine triphosphate via the electron-transport chain. Therefore, defects in mitochondrial DNA (mtDNA) can result in mitochondrial dysfunction which leads to various mitochondrial disorders that may present with various neurologic and non-neurologic manifestations. Mutations in the nuclear gene polymerase gamma (POLG) are associated with mtDNA depletions, and Alpers-Huttenlocher syndrome is one of the most severe manifestations of POLG mutation characterized by the clinical triad of intractable seizures, psychomotor regression, and liver failure. The hepatic manifestation usually occurs late in the disease's course, but in some references, hepatitis was reportedly the first manifestation. Liver transplantation was considered contraindicated in Alpers-Huttenlocher syndrome due to its poor prognosis. We acknowledged a patient with the first manifestation of the disease being hepatic failure who eventually underwent liver transplantation, and whose neurological outcome improved after cocktail therapy.
Palavras-chave
Texto completo:
1
Base de dados:
WPRIM
Assunto principal:
Fosforilação Oxidativa
/
Prognóstico
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Convulsões
/
DNA Mitocondrial
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Esclerose Cerebral Difusa de Schilder
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Trifosfato de Adenosina
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Transplante de Fígado
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Falência Hepática
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Doenças Mitocondriais
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Células Eucarióticas
Tipo de estudo:
Prognostic_studies
Limite:
Humans
Idioma:
En
Ano de publicação:
2017
Tipo de documento:
Article