Case Report: Pediatric Recurrent Acute Liver Failure Caused by Neuroblastoma Amplified Sequence (NBAS) Gene Mutations
نویسندگان
چکیده
منابع مشابه
Neuroblastoma amplified sequence gene mutation: A rare cause of recurrent liver failure in children
Neuroblastoma amplified sequence (NBAS) gene mutation or infantile liver failure syndrome type 2 (ILFS type 2) is an extremely rare disease characterized by episodic liver failure precipitated by intercurrent febrile illness, and liver function recovering completely. Here, we report a 4-year-old girl with recurrent hepatitis. A diagnosis of ILFS type 2 was made based on NBAS mutation gene found...
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BACKGROUND Underlying causes in Chinese children with recurrent acute liver failure (RALF), including liver crises less than full acute liver failure, are incompletely understood. We sought to address this by searching for genes mutated in such children. METHODS Five unrelated Chinese boys presenting between 2012 and 2015 with RALF of unexplained etiology were studied. Results of whole exome ...
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Acute liver failure (ALF) is the clinical manifestation of sudden and severe hepatic injury. It is a rare disorder, with an incidence between one and six cases per million people every year in the developed world, and it has a high mortality rate. There are many definitions of ALF, but it is mainly characterised by the presence of encephalopathy during the course of fulminant hepatitis in a pat...
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BACKGROUND Pediatric acute-liver-failure due to acetaminophen (APAP) administration at therapeutic dosage is rare, while viral infections and metabolic defects are the prevalent causes. Yet, as acetaminophen is routinely used in febrile illnesses, it may be mistakenly held responsible for the acute liver damage. CASE PRESENTATION An 11 month old boy had been on acetaminophen for 10 days (tota...
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ژورنال
عنوان ژورنال: Frontiers in Pediatrics
سال: 2021
ISSN: 2296-2360
DOI: 10.3389/fped.2020.607005