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Rare genetic mutation triggering acute liver failure in a toddler requiring a liver transplant
Author(s) -
Chen Charles B.,
Mistry Ambani Nila,
Zeft Andrew,
GarciaNaviero Reinaldo,
Hupertz Vera,
Hashimoto Koji,
Radhakrishnan Kadakkal
Publication year - 2021
Publication title -
pediatric transplantation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.457
H-Index - 69
eISSN - 1399-3046
pISSN - 1397-3142
DOI - 10.1111/petr.14048
Subject(s) - medicine , liver transplantation , toddler , liver failure , autoimmune hepatitis , adrenal insufficiency , pediatrics , hypoparathyroidism , mutation , hepatitis , transplantation , genetics , gene , psychology , developmental psychology , biology
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.