ArticleOrphanet journal of rare diseases2024
Clinical and genetic study of ABCB4 gene-related cholestatic liver disease in China: children and adults.
Article in Orphanet journal of rare diseases, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 5 citations in OpenAlex.
- ATP-binding Cassette Transporter Defects and Their Roles in Hepatic Diseases.Journal of clinical and translational hepatology · 2026Review
- Clinical spectrum and genotype-phenotype correlation ofWorld journal of hepatology · 2026Article
- Diagnostic challenges and mimicking disorders of Wilson's Disease: A comprehensive review.Caspian journal of internal medicine · 2026Review
- Clinical, genetic and functional perspectives on ATP-binding cassette subfamily B member 4 variants in five cholestasis adults.World journal of gastroenterology · 2025Article
- Genetics of Gallstones.Genes · 2025Review
- Novel ABCB4 mutation in a female patient with progressive familial intrahepatic cholestasis type 3: a case report and literature review.Annals of medicine and surgery (2012) · 2025Article
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Authors and funding
11 authors at 2 institutions in 1 country.
Funding
Abstract
backgroundABCB4 gene-related cholestatic liver diseases have a wide spectrum of clinical and genetic variations. The correlation between genotype and clinical phenotype still unclear. This study retrospectively analyzed the clinical and pathological characteristics of 23 patients with ABCB4 gene-related cholestatic liver diseases. Next-generation sequencing was used to identify the genetic causes.
resultsThe 23 included patients (15 children and 8 adults) were diagnosed as progressive familial intrahepatic cholestasis type 3 (PFIC3), drug-induced liver injury (DILI), cirrhosis cholestasis, cirrhosis, and mild liver fibrosis. Nineteen patients underwent liver pathological examination of the liver, exhibiting fibrosis, small bile duct hyperplasia, CK7(+), Cu(+), bile duct deletion, and cirrhosis. Thirty ABCB4 variants were identified, including 18 novel variants.
conclusionABCB4 gene-related cholestatic liver diseases have a wide spectrum of clinical and genetic variations. Biallelic ABCB4 mutation carriers tended to severe PFIC3, which mostly occurs in children; while ABCB4 non-biallelic variants can lead to milder ICP, LACP, DILI or overlapping, mostly in adults. Thus, the ABCB4 genotype has a specific correlation with the phenotype, but there are exceptions. Non-biallelic null mutations can cause severe diseases. The mechanisms underlying this genetic phenotype require further investigation.
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