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Article

Rare genetic mutation triggering acute liver failure in a toddler requiring a liver transplant.

Pediatric transplantation - 1 Sept 2021

Chen Charles B, Mistry Ambani Nila, Zeft Andrew, Garcia-Naviero Reinaldo, Hupertz Vera, Hashimoto Koji, Radhakrishnan Kadakkal

Abstract excerpt

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...

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PMID: 34076340
DOI: 10.1111/petr.14048

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