ReviewOrphanet journal of rare diseases2025
Genotypes and different clinical variants between children and adults in progressive familial intrahepatic cholestasis: a state-of-the-art review.
Review in Orphanet journal of rare diseases, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
12 citing papers in PubMed.
- Use of Next-Generation Sequencing and Whole-Exome Sequencing in the Diagnosis of Adult-Onset Familial Intrahepatic Cholestasis: Challenges in Interpreting Variants of Uncertain Significance.Diagnostics (Basel, Switzerland) · 2026Review
- Advancing precision hepatology for rare paediatric liver diseases.European journal of pediatrics · 2026Review
- Pediatric Cholestasis: A Practical Approach to Histological Diagnosis.Diagnostics (Basel, Switzerland) · 2026Review
- Beyond the Pump: The Evolving Molecular Landscape of Intrahepatic Cholestasis.Diagnostics (Basel, Switzerland) · 2026Review
- Pediatric Cholestatic Diseases in the Era of Ileal Bile Acid Transporter (IBAT) Inhibitors.Pediatric reports · 2026Review
- Primary Biliary Cholangitis Pathogenesis: A Pathophysiology-Based Narrative Review.International journal of molecular sciences · 2026Review
- Clinical spectrum and genotype-phenotype correlation ofWorld journal of hepatology · 2026Article
- Case Report: Recurrent intrahepatic cholestasis: two rare cases with their novel variants of ATB8B1 and atypical clinical findings.Frontiers in medicine · 2026Article
- Managing PFIC 7 with odevixibat: Alleviation of pruritus and biochemical response.JHEP reports : innovation in hepatology · 2026Article
- Reply to: "Managing PFIC 7 with odevixibat: Alleviation of pruritus and biochemical response".JHEP reports : innovation in hepatology · 2026Article
- Rare liver diseases - Etiology, diagnosis and management: A review.Biomolecules & biomedicine · 2025Review
- New hope in treating progressive familial intrahepatic cholestasis in children.World journal of hepatology · 2025Review
Corrections and comments
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Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionProgressive Familial intrahepatic cholestasis (PFIC) are rare disorders of bile acid (BAs) secretion and transport with a genetic background. PFIC are paediatric manifestations, but the same variants causing PFIC can also cause cholestasis with a later paediatric onset or adult-onset cholestatic disease (AOCD). Pruritus is a symptom of cholestasis that can be so devastating that it requires a liver transplant (LT) in children; some PFIC types have been described as at risk of liver cancer development. Commonly prescribed medications for PFIC symptoms can partially relieve pruritus without changing the natural history of the disease. Recently, a therapy reducing the intestinal resorption of BAs has been approved; it is effective on both pruritus and cholestasis in PFIC, potentially being a disease-modifying intervention. AREAS COVERED: The clinical and genetic characteristics of different PFIC and AOCD are summarized to provide a common background for geneticists and paediatric and adult hepatologists in diagnosis and management. EXPERT OPINION: Collaboration between paediatric and adult hepatologists and geneticists will become crucial for cholestatic disease research and patient treatment. Therefore, adult hepatologists will need to learn more about FIC. This might enable the implementation of individualized surveillance in FIC patients and the evaluation of patient family histories.
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