AI Article Synopsis
- Acute liver failure (ALF) in children is a critical condition often stemming from drug toxicity, autoimmune issues, metabolic disorders, or infections, but in about 50% of cases, the cause remains unclear.
- This report describes three children with recurrent ALF linked to specific genetic variants (NBAS and SCYL1), who exhibited no common symptoms related to these conditions.
- Two of the patients received liver transplants and are now healthy, leading to the suggestion that genetic testing for NBAS and SCYL1 be considered in similar unexplained cases of ALF.
Article Abstract
Acute liver failure (ALF) in childhood is a life-threatening emergency. ALF is often caused by drug toxicity, autoimmune hepatitis, inherited metabolic diseases, and infections. However, despite thorough investigations, a cause cannot be determined in approximately 50% of cases. Here, we report three cases with recurrent ALF caused by NBAS and SCYL1 pathogenic variants. These patients did not present with any other phenotypic sign usually associated with NBAS and SCYL1 pathogenic variants. Two of them underwent liver transplantation and are healthy without recurrence of ALF. We propose NBAS and SCYL1 genetic analysis in children with unexplained fever-triggered recurrent ALF even without a typical phenotype.
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| http://dx.doi.org/10.1016/j.arcped.2020.01.003 | DOI Listing |
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