ReviewWorld journal of hepatology2021
Newer variants of progressive familial intrahepatic cholestasis.
Review in World journal of hepatology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
27 citing papers in PubMed, 48 citations in OpenAlex.
- Advancing the Diagnosis and Management of Genetic Cholestatic Liver Disease in Adults.Digestive diseases and sciences · 2026Review
- Remarkable Response to Odevixibat in an Adult With Progressive Familial Intrahepatic Cholestasis Type 1 and Intractable Pruritus.ACG case reports journal · 2026Article
- Myosin 5b deficiency alters liver proliferation, zonation, and bile acid composition.Hepatology communications · 2026Article
- Clinical spectrum and genotype-phenotype correlation ofWorld journal of hepatology · 2026Article
- Progressive familial intrahepatic cholestasis type 5 due to a novel mutation in the NR1H4 gene.BMC pediatrics · 2025Article
- New hope in treating progressive familial intrahepatic cholestasis in children.World journal of hepatology · 2025Review
- Intrahepatic cholestasis of pregnancy.Nature reviews. Disease primers · 2025Review
- Odevixibat therapy in progressive familial intrahepatic cholestasis with MYO5B variants: a retrospective case series.Orphanet journal of rare diseases · 2025Article
- Real-world experience with odevixibat in children with progressive familial intrahepatic cholestasis.JHEP reports : innovation in hepatology · 2025Article
- Formation of tight junction-like structures of zonula occludens 2 in platelet-platelet interaction.Research and practice in thrombosis and haemostasis · 2025Article
- Genotypes and different clinical variants between children and adults in progressive familial intrahepatic cholestasis: a state-of-the-art review.Orphanet journal of rare diseases · 2025Review
- Review
- Bile acids as therapeutic agents.Frontiers in pharmacology · 2025Review
- ZFYVE19 gene mutation: A novel variant of progressive familial intrahepatic cholestasis.JPGN reports · 2024Article
- Progressive familial intrahepatic cholestasis type 4: a case report.Journal of medical case reports · 2024Article
- Article
- Treatment of Cholestasis in Infants and Young Children.Current gastroenterology reports · 2023Review
- A Rare Case of Progressive Familial Intrahepatic Cholestasis Type 4: A Case Report and Literature Review.Cureus · 2023Article
- Role of Alpha-Fetoprotein (AFP) in Diagnosing Childhood Cancers and Genetic-Related Chronic Diseases.Cancers · 2023Review
- Surgical versus Medical Management of Progressive Familial Intrahepatic Cholestasis-Case Compilation and Review of the Literature.Children (Basel, Switzerland) · 2023Review
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Progressive familial intrahepatic cholestasis (PFIC) is a heterogeneous group of disorders characterized by defects in bile secretion and presentation with intrahepatic cholestasis in infancy or childhood. The most common types include PFIC 1 (deficiency of FIC1 protein, ATP8B1 gene mutation), PFIC 2 (bile salt export pump deficiency, ABCB11 gene mutation), and PFIC 3 (multidrug resistance protein-3 deficiency, ABCB4 gene mutation). Mutational analysis of subjects with normal gamma-glutamyl transferase cholestasis of unknown etiology has led to the identification of newer variants of PFIC, known as PFIC 4, 5, and MYO5B related (sometimes known as PFIC 6). PFIC 4 is caused by the loss of function of tight junction protein 2 (TJP2) and PFIC 5 is due to NR1H4 mutation causing Farnesoid X receptor deficiency. MYO5B gene mutation causes microvillous inclusion disease (MVID) and is also associated with isolated cholestasis. Children with TJP2 related cholestasis (PFIC-4) have a variable spectrum of presentation. Some have a self-limiting disease, while others have progressive liver disease with an increased risk of hepatocellular carcinoma. Hence, frequent surveillance for hepatocellular carcinoma is recommended from infancy. PFIC-5 patients usually have rapidly progressive liver disease with early onset coagulopathy, high alpha-fetoprotein and ultimately require a liver transplant. Subjects with MYO5 B-related disease can present with isolated cholestasis or cholestasis with intractable diarrhea (MVID). These children are at risk of worsening cholestasis post intestinal transplant (IT) for MVID, hence combined intestinal and liver transplant or IT with biliary diversion is preferred. Immunohistochemistry can differentiate most of the variants of PFIC but confirmation requires genetic analysis.
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