Clic Logo Clic - Cholestatic Liver Diesase Consortium

CLiC Cholestatic Liver Disease Consortium

Participaiting Clinical Centers

Children's Hospital Medical Center, Cincinnati

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The Children's Hospital Medical Center Web Site

Contact Information:

James Heubi, MD
CLiC Site Principal Investigator
E-mail: james.heubi@cchmc.org

Kevin E. Bove, MD
CLiC Pathologist
E-mail: kevin.bove@uc.edu

Kenneth D. Setchell, PhD
CLiC Bile Acid Chain Core Director
E-mail: kenneth.setchell@chmcc.org

About Us:

Dr. James Heubi

Dr. James Heubi, is the Site Principal Investigator for the Cholestatic Liver Consortium for the Rare Diseases Clinical Research Network. He obtained his A.B. in Zoology from Indiana University and an M.D. from Indiana University . He completed an internship and residency in Pediatrics at James Whitcomb Riley Hospital at Indiana University in Indianapolis . His fellowship in Pediatric Gastroenterology and Nutrition was completed at the Cincinnati Children's Hospital Medical Center . He is currently a Professor of Pediatrics at the University of Cincinnati and the Program Director for the General Clinical Research Center at Cincinnati Children's Hospital Medical Center . His research interests include inborn errors of bile acid metabolism and the enterohepatic circulation of bile acids, the regulation of intestinal cholesterol absorption and bone disease in childhood health and disease.

Useful Links:

Division of Pediatric Gastroenterology, Hepatology and Nutrition

General Clinical Research Center

Publications:

References: Inborn Errors of Bile Acid Metabolism

  1. Setchell KDR, Street JM: Inborn errors of bile acid synthesis. Seminars in Liver Disease 7:85-99, 1987.
  2. Setchell KDR: Disorders of bile acid synthesis. In: Pediatric Gastrointestinal Disease, Pathophysiology, Diagnosis, Management, Vol 2, Ed: Walker WA, Durie PR, Hamilton JR, Walker-Smith JA, Watkins JA, B.C. Decker Inc. Pub, Toronto-Philadelphia, pp 992-1013, 1990.
  3. Setchell KDR, Suchy FJ, Welsh MB, Zimmer-Nechemias L, Heubi J, Balistreri WF: Delta 4 -3-oxosteroid 5-reductase deficiency described in identical twins with neonatal hepatitis - A new inborn error in bile acid synthesis. J Clin Invest 82:2148-57, 1988.
  4. Setchell KDR, O'Connell NC, Squires RH, Heubi JE. Congenital defects in bile acid synthesis cause a spectrum of diseases manifest as severe cholestasis, neurologic disease, and fat-soluble vitamin malabsorption. In Reyes, HB, Leuscher U, Arias IM (eds) Bile Acids in Hepatobiliary Disease. Kluwer Academic, Dordrecht. 1999, p. 55-63.
  5. Setchell KDR, Balistreri WF, Piccoli DA, Clerici C: Oral bile acid therapy in the treatment of inborn errors in bile acid synthesis associated with liver disease. In: Bile Acids as Therapeutic Agents. From Basic Science to Clinical Practice. Ed: Paumgartner G, Stiehl A, Gerok W, Kluwer Academic Pubs, Dordrecht/Boston/ London pp 367-373, 1990.
  6. Cheng JB, Jacquemin E, Gerhardt M, Nazer H, Creteil D, Heubi JE, Setchell KD, Russell DW. Molecular genetics of 3 beta-hydroxy-delta 5-C27-steroid oxidoreductase in 16 patienst with loss of bile acid synthesis and liver disease. J Clin Endocrin Metabol 2003; 88:1833-41.
  7. Shneider BL, Setchell KDR, Whitington PF, Neilson KA, Suchy FJ: D -3-Oxosteroid 5 b -reductase deficiency causing neonatal liver failure and hemochromatosis. J Ped 124(2):234-238, 1994.
  8. Daugherty CC, Setchell KDR, Heubi JE, Balistreri WF: Resolution of liver biopsy alterations in three siblings with bile acid treatment of an inborn error of bile acid metabolism ( Delta 4 -3-oxosteroid 5 Beta -reductase deficiency). Hepatology 18:1096-1101, 1993.
  9. Bove, KE, Daugherty CC, Wyson W, Mierau G, Heubi JE, Balistreri WF, Setchell KDR. Bile Acid Synthetic Defects and Liver Disease. Pediatric and Developmental Path 2000; 3:1-16.
  10. Bove KE, Heubi JE, Balistreri WF, Setchell KD. Bile acid synthetic defects and liver disease: a comprehensive review. Pediatr Dev Pathol 2004; 7:315-34.
  11. Setchell KDR, Heubi JE, Bove KE, et al. Liver disease caused by failure to racemize trihydroxycholestanoic acid: Gene mutation and effect of bile acid therapy. Gastroent 2003; 124:217-232.
  12. Cohran VC, Heubi JE. Treatment of Pediatric Cholestatic Liver Disease. Current Therapy 2003; 6:403-415.