Sequence variation in the ATP8B1 gene and 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 کاملABCB4 gene sequence variation in women with intrahepatic cholestasis of pregnancy.
Intrahepatic cholestasis of pregnancy (ICP), also known as obstetric cholestasis, is a liver disease of pregnancy that complicates 0.7% of pregnancies in the UK. 2 ICP causes maternal pruritus and hepatic impairment and can cause fetal death, spontaneous prematurity, and sudden intrauterine death. A diagnosis of ICP is made by the demonstration of abnormal liver function test results, and in pa...
متن کاملONLINE MUTATION REPORT ABCB4 gene sequence variation in women with intrahepatic cholestasis of pregnancy
Intrahepatic cholestasis of pregnancy (ICP), also known as obstetric cholestasis, is a liver disease of pregnancy that complicates 0.7% of pregnancies in the UK. 2 ICP causes maternal pruritus and hepatic impairment and can cause fetal death, spontaneous prematurity, and sudden intrauterine death. A diagnosis of ICP is made by the demonstration of abnormal liver function test results, and in pa...
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 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...
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ژورنال
عنوان ژورنال: European Journal of Human Genetics
سال: 2005
ISSN: 1018-4813,1476-5438
DOI: 10.1038/sj.ejhg.5201355