Volume 119, Issue 1, Pages (July 2000)

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Volume 119, Issue 1, Pages 188-195 (July 2000) Abnormal hepatic sinusoidal bile acid transport in an Amish Kindred is not linked to FIC1 and is improved by ursodiol D.Holmes Morton, Gerald Salen, A.K. Batta, Sarah Shefer, G.Stephen Tint, Deborah Belchis, Benjamin Shneider, Erik Puffenberger, Laura Bull, A.S. Knisely Gastroenterology Volume 119, Issue 1, Pages 188-195 (July 2000) DOI: 10.1053/gast.2000.8547 Copyright © 2000 American Gastroenterological Association Terms and Conditions

Fig. 1 Pedigree with genetic data. Squares represent males, and circles represent females. Solid symbols indicate affected individuals. Allele sizes for 5 genetic markers spanning the FIC1 region on chromosome 18q are shown. The markers are placed in their order along the chromosome from centromere to telomere, except that the order of D18S1401 relative to D18S977 is unknown. The boxes outlined in various patterns represent different copies of the FIC1 region present in the family. The data showing that 1 affected child (39f) does not have either of the copies of the FIC1 region that are present in the other 3 affected children strongly argue that the liver bile acid transport defect in this family is not a form of PFIC1. Gastroenterology 2000 119, 188-195DOI: (10.1053/gast.2000.8547) Copyright © 2000 American Gastroenterological Association Terms and Conditions

Fig. 2 Facial appearances of patients 39d, 39c, and 39e, now aged 2, 4, and 2 years, respectively, illustrating broad nasal bridges and wide-set eyes. Gastroenterology 2000 119, 188-195DOI: (10.1053/gast.2000.8547) Copyright © 2000 American Gastroenterological Association Terms and Conditions

Fig. 3 Physical growth for patient 39c. Weight (lower graph) and height (upper graph) were depressed before treatment, but increased with ursodiol treatment to 90th percentile for weight and 75th percentile for height. Gastroenterology 2000 119, 188-195DOI: (10.1053/gast.2000.8547) Copyright © 2000 American Gastroenterological Association Terms and Conditions

Fig. 4 Bar graph showing hepatic microsomal HMG-CoA reductase (HMGR) and cholesterol 7α-hydroxylase (C7αH) activities in patient 39c, and, for comparison, 4 controls and 4 atresia livers. Gastroenterology 2000 119, 188-195DOI: (10.1053/gast.2000.8547) Copyright © 2000 American Gastroenterological Association Terms and Conditions

Fig. 5 (A) Subcapsular wedge biopsy specimen of the liver showing early bridging fibrosis (H&E; original magnification 40×). (B) Higher-power photomicrograph illustrating portal and lobular inflammation with spotty hepatocyte necrosis, interface hepatitis, and mild ductular proliferation consistent with nonspecific reactive hepatitis. Cholestasis, bile duct paucity, and pseudoacinar change are absent (H&E; original magnification 100×). The biopsy specimen was taken after 2 months of ursodiol treatment. Gastroenterology 2000 119, 188-195DOI: (10.1053/gast.2000.8547) Copyright © 2000 American Gastroenterological Association Terms and Conditions