ArticleFrontiers in medicine2026
Case Report: Recurrent intrahepatic cholestasis: two rare cases with their novel variants of ATB8B1 and atypical clinical findings.
Article in Frontiers in medicine, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Recurrent intrahepatic cholestasis type 1 (RIC1), historically also known as BRIC 1 (benign recurrent intrahepatic cholestasis typr 1),is an autosomal recessive disorder presenting with intermittent episodes of cholestatic jaundice and caused by pathogenic variants of adenosine triphosphatase phospholipid transporting 8B1 (ATP8B1). Here, we describe two unusual RIC1-affected siblings, whose clinical courses and findings deviate from the classical RIC1 patients, emphasizing the potential adverse effects associated with recurrent cholestasis. Additionally, we have for the first time presented specific genetic, clinical and pathological evidence demonstrating that two novel compound heterozygous variants of ATP8B1 (c.749 T > C and c.3261 + 5G > A) had a significant effect on the expression of the ATP8B1 encoded protein, thereby contributing to cholestasis attacks.
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