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Mutations of the ATP binding cassette subfamily B member 4 (ABCB4) gene, a gene involved in a subtype of progressive familial intrahepatic cholestasis, have been reported in women suffering from intrahepatic cholestasis of pregnancy. The true incidence and the role of these ABCB4 gene mutations in patients suffering from intrahepatic cholestasis of pregnancy have not been clearly established.
The aim of the present study is to describe the nature and frequency of these mutations in a series of patients with intrahepatic cholestasis of pregnancy and to compare with a control group of pregnant women without intrahepatic cholestasis of pregnancy.
Intrahepatic cholestasis of pregnancy was defined by pruritus and elevated serum alanine aminotransferase activity or bile acid concentration, with recovery after delivery. Patients with intercurrent liver disease were excluded.
The entire ABCB4 gene coding sequence and the promoter region were analyzed, during the routine medical management, by single strand conformation polymorphism and/or sequencing in 50 unrelated Caucasian patients with intrahepatic cholestasis of pregnancy.
The genomic variants detected in these patients with intrahepatic cholestasis of pregnancy will be sought in 100 control women from Caucasian origin recruited in the same hospital.
Observational Model: Cohort, Time Perspective: Prospective
Intrahepatic Cholestasis of Pregnancy
Service de Gynécologie Obstétrique CHRU Tours
University Hospital, Tours
Published on BioPortfolio: 2014-08-27T03:29:48-0400
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An ATP-binding cassette, sub-family B protein (P-glycoproteins) that functions in the ATP-dependent secretion of BILE SALTS into the BILE CANALICULI of HEPATOCYTES. Mutations in the ABCB11 gene are associated with progressive familial intrahepatic cholestasis 2 (see CHOLESTASIS, INTRAHEPATIC).
Impairment of bile flow due to obstruction in small bile ducts (INTRAHEPATIC CHOLESTASIS) or obstruction in large bile ducts (EXTRAHEPATIC CHOLESTASIS).
Impairment of bile flow due to injury to the HEPATOCYTES; BILE CANALICULI; or the intrahepatic bile ducts (BILE DUCTS, INTRAHEPATIC).
JAUNDICE, the condition with yellowish staining of the skin and mucous membranes, that is due to impaired BILE flow in the BILIARY TRACT, such as INTRAHEPATIC CHOLESTASIS, or EXTRAHEPATIC CHOLESTASIS.
FIBROSIS of the hepatic parenchyma due to obstruction of BILE flow (CHOLESTASIS) in the intrahepatic or extrahepatic bile ducts (BILE DUCTS, INTRAHEPATIC; BILE DUCTS, EXTRAHEPATIC). Primary biliary cirrhosis involves the destruction of small intra-hepatic bile ducts and bile secretion. Secondary biliary cirrhosis is produced by prolonged obstruction of large intrahepatic or extrahepatic bile ducts from a variety of causes.
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