Rare Genetic Mutation Triggering Acute Liver Failure In A Toddler Requiring A Liver Transplant
AMERICAN JOURNAL OF TRANSPLANTATION(2021)
摘要
APS-1 is an extremely rare, autosomal recessive condition that often presents with candidiasis, adrenal insufficiency, and hypoparathyroidism. This condition is associated with autoimmune hepatitis in less than 20% of cases, and there have only been a few reports of children with the condition who developed ALF. We present a unique case of an infant with APS-1 who developed ALF and subsequently required liver transplantation.
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关键词
ALF, autoimmunity, hepatitis, immune tolerance, liver transplantation
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