Normal levels of serum pancreatic enzymes in patients with progressive familial intrahepatic cholestasis type 2.
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چکیده
منابع مشابه
Normal levels of serum pancreatic enzymes in patients with progressive familial intrahepatic cholestasis type 2.
INTRODUCTION High prevalence of elevated serum pancreatic enzymes in children with cholestasis with normal fecal elastase-1 concentrations has been documented. However, this state is related predominantly to biliary atresia. Therefore, we aimed to assess pancreatic damage by measuring serum pancreatic enzymes in patients with progressive familial intrahepatic cholestasis type 2 (PFIC type 2). ...
متن کاملPancreatic adenocarcinoma in type 2 progressive familial intrahepatic cholestasis
BACKGROUND BSEP disease results from mutations in ABCB11, which encodes the bile salt export pump (BSEP). BSEP disease is associated with an increased risk of hepatobiliary cancer. CASE PRESENTATION A 36 year old woman with BSEP disease developed pancreatic adenocarcinoma at age 36. She had been treated with a biliary diversion at age 18. A 1.7 x 1.3 cm mass was detected in the pancreas on ab...
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 کاملLocus heterogeneity in progressive familial intrahepatic cholestasis.
Progressive familial intrahepatic cholestasis (PFIC or Byler disease) is a rare autosomal recessive form of severe and fatal cholestatic liver disease. A locus for PFIC has recently been mapped to chromosome 18q21-q22 in the original Byler pedigree. This region harbours the locus for a related phenotype, benign recurrent intrahepatic cholestasis (BRIC), suggesting that these traits are allelic....
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ژورنال
عنوان ژورنال: Acta Biochimica Polonica
سال: 2010
ISSN: 1734-154X,0001-527X
DOI: 10.18388/abp.2010_2446