Novel ATP8B1 Gene Mutations in a Child with Progressive Familial Intrahepatic Cholestasis Type 1
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چکیده
منابع مشابه
A Novel Truncation Mutation in ATP8B1 Gene in Progressive Familial Intrahepatic Cholestasis.
BACKGROUND Progressive familial intrahepatic cholestasis has been only infrequently reported from India. CASE CHARACTERISTICS An Indian girl with progressive cholestatic liver disease beginning during infancy, normal gamma-glutamyl transpeptidase levels, parental consanguinity, positive family history and a fatal outcome. OBSERVATION A novel, homozygous mutation (c.[589_592inv;592_593insA])...
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Class III multidrug resistance (MDR) P-glycoproteins (P-gp), mdr2 in mice and MDR3 in man, mediate the translocation of phosphatidylcholine across the canalicular membrane of the hepatocyte. Mice with a disrupted mdr2 gene completely lack biliary phospholipid excretion and develop progressive liver disease, characterized histologically by portal inflammation, proliferation of the bile duct epit...
متن کاملProgressive familial intrahepatic cholestasis
Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal-recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin. The exact prevalence remains unknown, but the estimated incidence varies between 1/50,000 and 1/100,000 births. Three types of PFIC have been identified and associated with mutations ...
متن کاملATP8B1 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...
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ژورنال
عنوان ژورنال: Pediatric Gastroenterology, Hepatology & Nutrition
سال: 2019
ISSN: 2234-8646,2234-8840
DOI: 10.5223/pghn.2019.22.5.479