학술논문
Rare genetic mutation triggering acute liver failure in a toddler requiring a liver transplant.
Document Type
Article
Author
Source
Subject
*GENETIC mutation
*LIVER failure
*LIVER transplantation
*HYPOPARATHYROIDISM
*TODDLERS
*CHRONIC active hepatitis
*INFANTS
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Language
ISSN
1397-3142
Abstract
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. [ABSTRACT FROM AUTHOR]