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progressive familial intrahepatic cholestasis : ウィキペディア英語版 | progressive familial intrahepatic cholestasis
Progressive familial intrahepatic cholestasis (PFIC) refers to a group of familial cholestatic conditions caused by defects in biliary epithelial transporters. The clinical presentation usually occurs first in childhood with progressive cholestasis. This usually leads to failure to thrive, cirrhosis, and the need for liver transplantation. ==Signs and symptoms== The onset of the disease is usually before age 2, but patients have been diagnosed with PFIC even into adolescence. Of the three entities, PFIC-3 usually presents earliest. Patients usually present in early childhood with cholestasis, jaundice, and failure to thrive. Intense pruritus is characteristic; in patients who present in adolescence, it has been linked with suicide. Patients may have fat malabsorption, leading to fat soluble vitamin deficiency, and complications, including osteopenia.〔(【引用サイトリンク】title=eMedicine - Progressive Familial Intrahepatic Cholestasis : Article by Karan M Emerick, MD )〕
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