To describe two unusual cases of siblings affected by recurrent intrahepatic cholestasis type 1 (RIC1) and to present genetic evidence of novel ATP8B1 variants.
Approach:
Case 1: A 35-year-old man with recurrent jaundice and cholestasis was evaluated for genetic variants of ATP8B1 after multiple hospital visits and a liver biopsy.
Case 2: A 30-year-old woman, sister of Case 1, presented with similar symptoms and was also assessed for ATP8B1 variants.
Key Findings:
Both siblings exhibited atypical clinical presentations of RIC1.
Novel compound heterozygous variants of ATP8B1 (c.749 T > C and c.3261 + 5G > A) were identified.
The clinical courses of the siblings deviated from classical RIC1 cases.
Interpretation:
The identified ATP8B1 variants affect protein expression and contribute to the clinical manifestations of RIC1.
Limitations:
Limited documentation of clinical visits and treatment details for Case 1.
The specific dosages of medications administered were not recorded.
Conclusion:
This case study enhances understanding of atypical RIC1 presentations and the genetic basis underlying these cases.
