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

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

  • 0 min

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Clinical Report: Uncommon Variants of ATP8B1 in Siblings with RIC

Overview

This case study describes two siblings with recurrent intrahepatic cholestasis type 1 (RIC1) exhibiting distinct clinical presentations and novel ATP8B1 variants.

Background

Recurrent intrahepatic cholestasis type 1 (RIC1) is an autosomal recessive disorder characterized by intermittent cholestatic jaundice due to pathogenic variants in the ATP8B1 gene. This case study provides insights into atypical presentations and novel genetic variants in affected siblings.

Data Highlights

No numerical data or trial data presented in the article.

Key Findings

  • Two siblings diagnosed with RIC1 presented with atypical clinical courses.
  • Novel compound heterozygous variants of ATP8B1 (c.749 T > C and c.3261 + 5G > A) were identified.
  • Both siblings experienced recurrent episodes of cholestatic jaundice.
  • Clinical presentations deviated from classical RIC1 symptoms.
  • Laboratory findings during cholestasis attacks included markedly elevated serum bilirubin and total bile acid levels.

Clinical Implications

Clinicians should be aware of the potential for atypical presentations in RIC1.

Conclusion

This case study highlights the genetic diversity and clinical variability in RIC1.

Related Resources & Content

  1. Frontiers in Medicine, 2026 -- A novel homozygous variant in the ATP7B gene in a patient with Wilson’s disease: a case report
  2. Frontiers in Pediatrics, 2026 -- Clinical utility of an evolving cholestasis gene panel in 10,000 children and adults
  3. Spanish clinical practice guidelines for the diagnosis and management of cholestatic liver diseases in adult and pediatric population: Joint report from AEEH and SEGHNP - ScienceDirect
  4. ATP8B1 ATPase phospholipid transporting 8B1 [Homo sapiens (human)] - Gene - NCBI
  5. Frontiers in Pediatrics — Clinical and genetic characteristics of children with sodium taurocholate cotransporting poly-peptide deficiency
  6. Frontiers in Pediatrics — Case Report: Atypical hepatobiliary manifestations associated with erythrocyte membrane instability in glucose transporter type 1 deficiency syndrome
  7. European S2k Guideline on Chronic Pruritus - PubMed
  8. BYLVAY (odevixibat) Highlights of Prescribing Information
  9. Spanish clinical practice guidelines for the diagnosis and management of cholestatic liver diseases in adult and pediatric population: Joint report from AEEH and SEGHNP - ScienceDirect
  10. ATP8B1 ATPase phospholipid transporting 8B1 [Homo sapiens (human)] - Gene - NCBI
  11. Odevixibat for Episodic Intrahepatic Cholestasis due to Biallelic Mutations in ATP8B1: A Case Series - the University of Groningen research portal
  12. Odevixibat after liver transplant in patients with progressive familial intrahepatic cholestasis type 1: A case series - Vogel - 2025 - Journal of Pediatric Gastroenterology and Nutrition - Wiley Online Library
  13. Indirect Comparison of Maralixibat and Odevixibat for the Treatment of Progressive Familial Intrahepatic Cholestasis - PubMed
  14. Study Details | NCT07497724 | Odevixibat Outcomes in Patients With PFIC Versus an External Control Cohort (OvEC-PFIC) | ClinicalTrials.gov

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

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