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Chapter 41 - Fibrocystic liver disease

from Section V - Other considerations and issues in pediatric hepatology

Published online by Cambridge University Press:  05 March 2014

Ronen Arnon
Affiliation:
Departments of Pediatrics, Hepatology and Surgery, Medical Director of Pediatric Hepatology and Liver Transplantation, Mount Sinai School of Medicine, New York, NY, USA
Maureen M. Jonas
Affiliation:
Division of Gastroenterology, Hepatology and Nutrition, Children’s Hospital Boston, and Harvard Medical School, Boston, MA, USA
Antonio R. Perez-Atayde
Affiliation:
Department of Pathology, Boston Children’s Hospital and Harvard Medical School, Boston, MA, USA
Frederick J. Suchy
Affiliation:
University of Colorado Medical Center
Frederick J. Suchy
Affiliation:
University of Colorado Medical Center
Ronald J. Sokol
Affiliation:
University of Colorado Medical Center
William F. Balistreri
Affiliation:
University of Cincinnati College of Medicine
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Summary

Introduction

Fibrocystic liver disease refers to a heterogeneous group of disorders that share some pathophysiologic and clinical features but have important differences. Cystic dilatation of intrahepatic bile duct structures and variable degrees of portal fibrosis are the hallmarks of fibrocystic liver disease. In most instances, there are morphologic abnormalities in the kidneys and pancreas that parallel those of the liver. For this reason, and to appreciate more thoroughly the shared pathogenesis and implications for organogenesis, fibrocystic liver disease and corresponding renal counterparts are discussed together.

It has been recognized for centuries that hepatic and renal cysts are seen in the same individuals [1], although it has not always been accepted that they are manifestations of the same diseases. The older literature contains confusing descriptive classifications of fibrocystic diseases, with imprecise and overlapping definitions. Even now, attempts at describing clinical and radiographic features, prognosis, natural history, and treatment are somewhat hampered by reliance on these descriptive reports. However, much of the molecular basis for these disorders has been elucidated, and clinical diagnoses are being modified using more exact genetic criteria. The current consensus is that genetic determinants of differentiation and development of renal tubules and biliary structures result in a broad spectrum of congenital abnormalities grouped under the heading of fibrocystic liver and kidney disease.

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Publisher: Cambridge University Press
Print publication year: 2014

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  • Fibrocystic liver disease
    • By Ronen Arnon, Departments of Pediatrics, Hepatology and Surgery, Medical Director of Pediatric Hepatology and Liver Transplantation, Mount Sinai School of Medicine, New York, NY, USA, Maureen M. Jonas, Division of Gastroenterology, Hepatology and Nutrition, Children’s Hospital Boston, and Harvard Medical School, Boston, MA, USA, Antonio R. Perez-Atayde, Department of Pathology, Boston Children’s Hospital and Harvard Medical School, Boston, MA, USA, Frederick J. Suchy, University of Colorado Medical Center
  • Edited by Frederick J. Suchy, University of Colorado Medical Center, Ronald J. Sokol, University of Colorado Medical Center, William F. Balistreri
  • Book: Liver Disease in Children
  • Online publication: 05 March 2014
  • Chapter DOI: https://doi.org/10.1017/CBO9781139012102.042
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  • Fibrocystic liver disease
    • By Ronen Arnon, Departments of Pediatrics, Hepatology and Surgery, Medical Director of Pediatric Hepatology and Liver Transplantation, Mount Sinai School of Medicine, New York, NY, USA, Maureen M. Jonas, Division of Gastroenterology, Hepatology and Nutrition, Children’s Hospital Boston, and Harvard Medical School, Boston, MA, USA, Antonio R. Perez-Atayde, Department of Pathology, Boston Children’s Hospital and Harvard Medical School, Boston, MA, USA, Frederick J. Suchy, University of Colorado Medical Center
  • Edited by Frederick J. Suchy, University of Colorado Medical Center, Ronald J. Sokol, University of Colorado Medical Center, William F. Balistreri
  • Book: Liver Disease in Children
  • Online publication: 05 March 2014
  • Chapter DOI: https://doi.org/10.1017/CBO9781139012102.042
Available formats
×

Save book to Google Drive

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Google Drive.

  • Fibrocystic liver disease
    • By Ronen Arnon, Departments of Pediatrics, Hepatology and Surgery, Medical Director of Pediatric Hepatology and Liver Transplantation, Mount Sinai School of Medicine, New York, NY, USA, Maureen M. Jonas, Division of Gastroenterology, Hepatology and Nutrition, Children’s Hospital Boston, and Harvard Medical School, Boston, MA, USA, Antonio R. Perez-Atayde, Department of Pathology, Boston Children’s Hospital and Harvard Medical School, Boston, MA, USA, Frederick J. Suchy, University of Colorado Medical Center
  • Edited by Frederick J. Suchy, University of Colorado Medical Center, Ronald J. Sokol, University of Colorado Medical Center, William F. Balistreri
  • Book: Liver Disease in Children
  • Online publication: 05 March 2014
  • Chapter DOI: https://doi.org/10.1017/CBO9781139012102.042
Available formats
×