2000
DOI: 10.1002/1096-8628(20001218)95:5<450::aid-ajmg8>3.0.co;2-v
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Autosomal dominant benign recurrent intrahepatic cholestasis (BRIC) unlinked to 18q21 and 2q24

Abstract: Benign recurrent intrahepatic cholestasis (BRIC) is an autosomal recessive liver disease characterized by multiple episodes of cholestasis without progression to chronic liver disease. On the basis of recent evidence of locus heterogeneity, we studied 19 subjects (7 affected members) of a BRIC family. Male-to-male transmission and the presence of affected females suggested autosomal dominant inheritance. Blood samples were collected after informed consent. Subjects were genotyped by using markers mapping to 18… Show more

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Cited by 28 publications
(16 citation statements)
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“…A subtype of BRIC with autosomal dominant inheritance is also described, but the gene mutated in this defect has not yet been identified. 35 FIC1 disease FIC1 disease is defined by genetic criteria: all patients have mutations in ATP8B1. However, the disorder comprises at least three previously described clinical entities: progressive familial intrahepatic cholestasis type 1 (PFIC1), benign recurrent intrahepatic cholestasis type 1 (BRIC1), and Greenland familial cholestasis (GFC).…”
Section: Transporter Defects Affecting Bile Formationmentioning
confidence: 99%
“…A subtype of BRIC with autosomal dominant inheritance is also described, but the gene mutated in this defect has not yet been identified. 35 FIC1 disease FIC1 disease is defined by genetic criteria: all patients have mutations in ATP8B1. However, the disorder comprises at least three previously described clinical entities: progressive familial intrahepatic cholestasis type 1 (PFIC1), benign recurrent intrahepatic cholestasis type 1 (BRIC1), and Greenland familial cholestasis (GFC).…”
Section: Transporter Defects Affecting Bile Formationmentioning
confidence: 99%
“…However, the defect could not be traced to chromosome 18 mutations in all patients with bona fide BRIC. 34 Ursodeoxycholic acid is of no benefit in BRIC. 35,36 Case reports indicate that rifampicine may reduce the number of cholestatic episodes.…”
Section: Benign Recurrent Intrahepatic Cholestasismentioning
confidence: 99%
“…5 Mutation in single gene FICI (recently renamed AT8B1) were found to be responsible for this disease in most families described to date 6,7 although genetic heterogeneity is present. 8,9 Recently BRIC type 2 caused by another mutational change in ABCBII has been documented. 10 The attacks can start at any age but the first attack usually seen before the second decade of life.…”
Section: Discussionmentioning
confidence: 99%