Case Report: Recurrent intrahepatic cholestasis: two rare cases with their novel variants of ATB8B1 and atypical clinical findings - Takeaways - MDSpire
Coming Soon: Introducing MDSpire News. Learn more
Conexiant’s news site is now MDSpire News. Learn more

Case Study: Uncommon Variants of ATP8B1 in Siblings with Recurrent Intrahepatic Cholestasis and Distinct Clinical Presentations

  • By

  • Jiaxun Li

  • Qi Wei

  • Sicong Liu

  • Luyu Lv

  • Huarong Ding

  • Liping Guo

  • Diefei Hu

  • Qiuyue Ning

  • July 10, 2026

Share

  • 1

    Recurrent intrahepatic cholestasis type 1 (RIC1) is an autosomal recessive disorder caused by variants in ATP8B1.

  • 2

    The study presents two siblings with atypical clinical presentations of RIC1, deviating from classical patient profiles.

  • 3

    Two novel compound heterozygous variants of ATP8B1 were identified, impacting protein expression and contributing to cholestasis.

  • 4

    Case 1 involved a 35-year-old man with severe jaundice and ineffective treatment, leading to his eventual death from sepsis.

  • 5

    Case 2, the sister, experienced recurrent cholestasis attacks with digestive symptoms, highlighting variability in clinical presentation.

Original Source(s)

Case Report: Recurrent intrahepatic cholestasis: two rare cases with their novel variants of ATB8B1 and atypical clinical findings

  • by Jiaxun Li, Qi Wei, Sicong Liu, Luyu Lv, Huarong Ding, Liping Guo, Diefei Hu, Qiuyue Ning

  • July 10, 2026

Related Content

Macrophages in MASLD: from inflammatory and metabolic crosstalk to exercise intervention

Divergent risk profiles for cause-specific mortality in MASLD and MetALD: a nationwide population-based study

PON1 haplotypes show genotype-dependent associations with dysglycemia and metabolic liver risk beyond paraoxonase activity