Apolipoprotein E Polymorphism in Alagille Syndrome and Progressive Familial Intrahepatic Cholestasis
作者： P. Socha , G. Nowicka , I. Jankowska , J. Rujner , J. Pawłowska
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摘要: The aim of the study was to assess apolipoprotein E polymorphism (apoE) in two familial cholestatic diseases—Alagille syndrome (AS) and progressive intrahepatic cholestasis (PFIC)—and estimate its association with gallstone formation, cholesterol levels, response UDCA treatment. We investigated 16 children AS age 8.8 ± 5.7 years (mean sd) 18 PFIC 6.3 4.6 years. frequency e-2 allele higher e-3 lower than controls. Gallstones were diagnosed nine different apoE phenotypes. No between phenotype levels or therapy observed patients studied. In conclusion, is overrepresented PFIC, similar primary biliary cirrhosis, although this does not seem contribute gallstones, therapy.
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