ATP8B1 mutations in British cases with intrahepatic cholestasis of pregnancy
نویسندگان
چکیده
منابع مشابه
ATP8B1 mutations in British cases with intrahepatic cholestasis of pregnancy.
BACKGROUND Intrahepatic cholestasis of pregnancy (ICP) affects approximately 0.7% of pregnancies in the UK and is associated with prematurity, fetal distress, and intrauterine death. Homozygous mutations in the ATP8B1 gene cause cholestasis with a normal serum gamma-glutamyl transpeptidase (gamma-GT), and have been reported in two forms of cholestasis: progressive familial intrahepatic cholesta...
متن کاملIntrahepatic cholestasis of pregnancy.
Intrahepatic cholestasis of pregnancy is the most common pregnancy-specific liver disease that typically presents in the third trimester. The clinical features are maternal pruritus in the absence of a rash and deranged liver function tests, including raised serum bile acids. Intrahepatic cholestasis of pregnancy is associated with an increased risk of adverse perinatal outcomes, including spon...
متن کاملManagement of intrahepatic cholestasis in pregnancy.
Intrahepatic cholestasis of pregnancy (ICP) is the most common liver disease during pregnancy, characterized by otherwise unexplained pruritus in late second and third trimester of pregnancy and elevated bile acids and/or transaminases. ICP is associated with an increased risk of adverse perinatal outcomes for the fetus and the later development of hepatobiliary disease for the mother. Bile aci...
متن کاملBenign Recurrent Intrahepatic Cholestasis with a Single Heterozygote Mutation in the ATP8B1 Gene
Benign recurrent intrahepatic cholestasis (BRIC) is a rare autosomal recessive inherited disorder characterized by multiple recurrent episodes of severe cholestatic jaundice without obstruction of extrahepatic bile duct. We present the case of a 7-year-old boy with BRIC confirmed by mutation analysis in the ATP8B1 gene and typical clinical manifestation. Despite inheritance of BRIC, we detected...
متن کاملHealth behavior after intrahepatic cholestasis of pregnancy
Background: Pregnancy is an opportunity to adopt favorable health behaviors. We studied whether intrahepatic cholestasis of pregnancy (ICP) promotes favorable health behavior in later life. Design: A prospective controlled cohort study. The method was a questionnaire survey in 2010 among 575 women with ICP and 1374 controls, all having delivered between the years 1969 and 1988 in Tampere Univer...
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ژورنال
عنوان ژورنال: Gut
سال: 2005
ISSN: 0017-5749
DOI: 10.1136/gut.2004.058115