Mapping of a locus for progressive familial intrahepatic cholestasis (Byler disease) to 18q21-q22, the benign recurrent intrahepatic cholestasis region |
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| Authors: | Carlton Victoria EH; Knisely AS; Freimer Nelson B |
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| Institution: | Department of Biochemistry and Biophysics, University of California San Francisco, CA
1Department of Pathology, Children's Hospital of Pittsburgh and University of Pittsburgh Pittsburgh, PA
2Neurogenetics Laboratory and Center for Neurobiology and Psychiatry, Department of Psychiatry, University of California San Francisco, CA, 94143, USA |
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| Abstract: | A locus for progressive familial intrahepatic cholestasis (PFIC),also known as Byler disease, has been mapped to a 19 cM regionof chromosome 18 by a search for shared segments, using patientsfrom the Amish kindred in which the disorder was originallydescribed. A similar liver disease, benign recurrent intrahepaticcholestasis (BRIC), recently has been mapped to the same region,suggesting that these two diseases are caused by mutations inthe same gene. Although PFIC and BRIC are clinically distinctdiseases, episodic attacks of jaundice and pruritus, with elevatedconcentrations of bile acid in serum, are seen in both disorders.In PFIC patients, these attacks result in progressive liverdamage and death. The clinical and biochemical features of PFICand BRIC are suggestive of a defect in primary bile acid secretion.The biology of bile secretion is of great interest because ofits vital importance in digestion of dietary fats as well asin secretion of xenobiotics and metabolic waste products. Cloningof the gene (or genes) responsible for PFIC and BRIC will likelyprovide important insights into this pathway. |
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