ABCB4 mutations in adult patients with cholestatic liver disease: impact and phenotypic expression

@article{Degiorgio2015ABCB4MI,
  title={ABCB4 mutations in adult patients with cholestatic liver disease: impact and phenotypic expression},
  author={Dario Degiorgio and Andrea Crosignani and Carla Colombo and Domenico Bordo and Massimo Zuin and Emanuela Vassallo and Marie Lousie Syr{\'e}n and Domenico A Coviello and Pier Maria Battezzati},
  journal={Journal of Gastroenterology},
  year={2015},
  volume={51},
  pages={271-280}
}
BackgroundThe ABCB4 gene encodes the MDR3 protein. Mutations of this gene cause progressive familial intrahepatic cholestasis type 3 (PFIC3) in children, but their clinical relevance in adults remains ill defined. The study of a well-characterized adult patient series may contribute to refining the genetic data regarding cholangiopathies of unknown origin. Our aim was to evaluate the impact of ABCB4 mutations on clinical expression of cholestasis in adult patients.MethodsWe consecutively… 
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TLDR
The common ABCB4 c.711A>T and ABCB11 p.A444V polymorphisms are more prevalent in adult patients with idiopathic cholestasis than in healthy controls and may therefore represent risk factors for the development of chronic cholESTatic liver disease.
ABCB4 variants in adult patients with cholestatic disease are frequent and underdiagnosed.
Clinical phenotype of adult-onset liver disease in patients with variants in ABCB4, ABCB11, and ATP8B1.
TLDR
Variants in ATP8B1, ABCB11, and ABCB4 underlie the most prevalent forms of progressive familial intrahepatic cholestasis, and they should no longer be considered recessive Mendelian traits.
Infantile cholestasis related to ABCB4 gene mutation and cytomegalovirus (CMV) infection: a case report
TLDR
It was considered that patient with heterozygous ABCB4 gene mutation had residual gene expression and a relatively low level of MDR3 proteins, but CMV infection further down regulated the gene expression, disturbing the bile secretion, leading to cholestasis.
The wide phenotypic and genetic spectrum of ABCB4 gene deficiency: A case series.
  • D. Falcão, I. Pedroto, T. Moreira
  • Medicine, Biology
    Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver
  • 2021
Familial intrahepatic cholestasis: New and wide perspectives.
ABCB4 disease: Many faces of one gene deficiency.
ABCB4 Gene Aberrations in Human Liver Disease: An Evolving Spectrum.
TLDR
Current functional classifications for ABCB4 deficiency-associated mutations can guide the development of novel genotype-based targeted pharmacotherapies for these conditions.
A novel compound heterozygous mutation in ABCB4 gene in a pedigree with progressive familial intrahepatic cholestasis 3: a case report.
TLDR
A novel compound heterozygous mutation L842P/V1051A caused a continuum of ABCB4-related diseases including ICP, cholelithiasis and PFIC3 in the authors' pedigree and will be useful for diagnosis and genetic counseling.
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