Gastroenterology/Hepatology
Scholarly Sessions
Kazuhiko Bessho, MD, PhD
Graduate School of Medicine, Osaka University
Osaka, Japan
Ronald Sokol, MD
Professor and Vice Chair of Pediatrics
University of Colorado School of Medicine
Aurora, Colorado, United States
In recent years, remarkable progress has been made in the field of genetic liver diseases, and the causative genes have been identified one after another. In this symposium, we will review the progress in diagnosis and management of the inborn errors of bile acid metabolism (IEBAM) and inherited cholestatic liver diseases such as progressive familial intrahepatic cholestasis (PFIC). Bile acids (BA) are synthesized by the liver from cholesterol through a complex series of reactions involving at least 14 enzymatic steps. In IEBAM, one of these steps in BA synthesis is impaired, resulting in failure to produce normal BA and inhibition of BA production, which in turn results in accumulation of abnormal BA and intermediate metabolites. accumulation occurs. Failure to synthesize BA results in decreased bile flow and decreased intraluminal solubilization of fats and fat-soluble vitamins, and the intermediates created because of blockade in the BA biosynthetic pathway may be toxic to hepatocytes. PFIC, on the other hand, is an ever-increasing group of diseases. Genetics has helped unravel the disease mechanisms, and we can better understand the spectra of phenotypes associated with mutations in each gene. Different responses to medical and surgical management, based on genetic etiology and molecular mechanisms, are becoming apparent. We will share the results of panel genetic testing for infantile cholestasis in USA and Asian countries, discuss the next approach when panel genetic testing fails to provide a diagnosis and promote future collaborative clinical research between USA and Asian countries.
Speaker: William F. Balistreri, MD – CCHMC - Univ of Cincinnati
Speaker: Huey-Ling Chen, MD. PhD – National Taiwan University College of Medicine and Children's Hospital
Speaker: Kazuo Imagawa, MD, PhD – Department of Pediatrics, Faculty of Medicine, University of Tsukuba
Speaker: Saul J. Karpen, MD, PhD – Emory University School of Medicine