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http://purl.uniprot.org/citations/33390354http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/33390354http://www.w3.org/2000/01/rdf-schema#comment"

Background

Heterozygous ABCB4 variants are not routinely tested in adults with cholestasis because of their supposed rarity and high costs.

Methods

Nineteen adult patients presenting with unexplained cholestasis, and/or recurrent gallstones were included; genotyping was not done in five due to lack of health insurance approval.

Results

heterozygous ABCB4 variants were identified in seven patients, followed by cascade testing of 12 family members: one patient underwent liver transplantation at age 40 for end-stage liver disease; one had compensated cirrhosis; all symptomatic adults had gallstones, including four with low phospholipid-associated cholelithiasis; four had intrahepatic cholestasis of pregnancy; all children and one 54-year old female were asymptomatic. Genotype: Families A and C: c.2211G>A (p.Ala737=) combined with c.959C>T (p.Ser320Phe) in one subject; Family B: c.1130T>C (p.Ile377Thr); Family D: large deletion removing ABCB4 exons 1-4 plus ABCB1, RUNDC3B, SLC25A40, DBF4, ADAM22 exons 1-3; Family E: c.1565T>C (p.Phe522Ser) ; Family F: c.1356+2T>C combined with c.217C>G (p.Leu73Val). All patients responded to ursodeoxycholic acid.

Conclusions

We found ABCB4 variants in half of the adults with unexplained cholestasis and/or recurrent gallstones presenting at our center, suggesting that this condition is underdiagnosed and undertreated, with serious consequences not only for the patients and their families, but also in terms of healthcare costs."xsd:string
http://purl.uniprot.org/citations/33390354http://purl.org/dc/terms/identifier"doi:10.1016/j.dld.2020.12.003"xsd:string
http://purl.uniprot.org/citations/33390354http://purl.uniprot.org/core/author"Mieli-Vergani G."xsd:string
http://purl.uniprot.org/citations/33390354http://purl.uniprot.org/core/author"Morris M."xsd:string
http://purl.uniprot.org/citations/33390354http://purl.uniprot.org/core/author"Bihl F."xsd:string
http://purl.uniprot.org/citations/33390354http://purl.uniprot.org/core/author"Vergani D."xsd:string
http://purl.uniprot.org/citations/33390354http://purl.uniprot.org/core/author"Cassatella D."xsd:string
http://purl.uniprot.org/citations/33390354http://purl.uniprot.org/core/author"Merlo E."xsd:string
http://purl.uniprot.org/citations/33390354http://purl.uniprot.org/core/author"Andrade A.R."xsd:string
http://purl.uniprot.org/citations/33390354http://purl.uniprot.org/core/author"Cerny A."xsd:string
http://purl.uniprot.org/citations/33390354http://purl.uniprot.org/core/author"Terziroli Beretta-Piccoli B."xsd:string
http://purl.uniprot.org/citations/33390354http://purl.uniprot.org/core/author"Rougemont A.L."xsd:string
http://purl.uniprot.org/citations/33390354http://purl.uniprot.org/core/author"Moix I."xsd:string
http://purl.uniprot.org/citations/33390354http://purl.uniprot.org/core/author"Avena A."xsd:string
http://purl.uniprot.org/citations/33390354http://purl.uniprot.org/core/author"Majno-Hurst P."xsd:string
http://purl.uniprot.org/citations/33390354http://purl.uniprot.org/core/author"Pareti E."xsd:string
http://purl.uniprot.org/citations/33390354http://purl.uniprot.org/core/author"Puggelli S."xsd:string
http://purl.uniprot.org/citations/33390354http://purl.uniprot.org/core/date"2021"xsd:gYear
http://purl.uniprot.org/citations/33390354http://purl.uniprot.org/core/name"Dig Liver Dis"xsd:string
http://purl.uniprot.org/citations/33390354http://purl.uniprot.org/core/pages"329-344"xsd:string
http://purl.uniprot.org/citations/33390354http://purl.uniprot.org/core/title"ABCB4 variants in adult patients with cholestatic disease are frequent and underdiagnosed."xsd:string
http://purl.uniprot.org/citations/33390354http://purl.uniprot.org/core/volume"53"xsd:string
http://purl.uniprot.org/citations/33390354http://www.w3.org/2004/02/skos/core#exactMatchhttp://purl.uniprot.org/pubmed/33390354
http://purl.uniprot.org/citations/33390354http://xmlns.com/foaf/0.1/primaryTopicOfhttps://pubmed.ncbi.nlm.nih.gov/33390354
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