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39 - Fibrocystic Liver Disease

from SECTION V - OTHER CONDITIONS AND ISSUES IN PEDIATRIC HEPATOLOGY

Published online by Cambridge University Press:  18 December 2009

By
Maureen M. Jonas M.D.  and
Antonio R. Perez-Atayde M.D.
Edited by
Frederick J. Suchy ,
Ronald J. Sokol  and
William F. Balistreri
Maureen M. Jonas M.D.
Affiliation:
Associate Professor, Department of Pediatrics, Harvard Medical School, Boston, Massachusetts; Associate in Gastroenterology, Department of Medicine, Division of Gastroenterology, Children's Hospital Boston, Boston, Massachusetts
Antonio R. Perez-Atayde M.D.
Affiliation:
Associate Professor of Pathology, Department of Pathology, Children's Hospital Boston, Boston, Massachusetts
Frederick J. Suchy
Affiliation:
Mount Sinai School of Medicine, New York
Ronald J. Sokol
Affiliation:
University of Colorado, Denver
William F. Balistreri
Affiliation:
University of Cincinnati
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Summary

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 [2]. 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 [3].

Embryologic development of the liver has been discussed elsewhere (see Chapter 1) and will not be fully reviewed here.

Type
Chapter
Information
Liver Disease in Children , pp. 928 - 942
Publisher: Cambridge University Press
Print publication year: 2007

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  • Fibrocystic Liver Disease
    • By Maureen M. Jonas, M.D., Associate Professor, Department of Pediatrics, Harvard Medical School, Boston, Massachusetts; Associate in Gastroenterology, Department of Medicine, Division of Gastroenterology, Children's Hospital Boston, Boston, Massachusetts, Antonio R. Perez-Atayde, M.D., Associate Professor of Pathology, Department of Pathology, Children's Hospital Boston, Boston, Massachusetts
  • Edited by Frederick J. Suchy, Mount Sinai School of Medicine, New York, Ronald J. Sokol, University of Colorado, Denver, William F. Balistreri, University of Cincinnati
  • Book: Liver Disease in Children
  • Online publication: 18 December 2009
  • Chapter DOI: https://doi.org/10.1017/CBO9780511547409.041
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  • Fibrocystic Liver Disease
    • By Maureen M. Jonas, M.D., Associate Professor, Department of Pediatrics, Harvard Medical School, Boston, Massachusetts; Associate in Gastroenterology, Department of Medicine, Division of Gastroenterology, Children's Hospital Boston, Boston, Massachusetts, Antonio R. Perez-Atayde, M.D., Associate Professor of Pathology, Department of Pathology, Children's Hospital Boston, Boston, Massachusetts
  • Edited by Frederick J. Suchy, Mount Sinai School of Medicine, New York, Ronald J. Sokol, University of Colorado, Denver, William F. Balistreri, University of Cincinnati
  • Book: Liver Disease in Children
  • Online publication: 18 December 2009
  • Chapter DOI: https://doi.org/10.1017/CBO9780511547409.041
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  • Fibrocystic Liver Disease
    • By Maureen M. Jonas, M.D., Associate Professor, Department of Pediatrics, Harvard Medical School, Boston, Massachusetts; Associate in Gastroenterology, Department of Medicine, Division of Gastroenterology, Children's Hospital Boston, Boston, Massachusetts, Antonio R. Perez-Atayde, M.D., Associate Professor of Pathology, Department of Pathology, Children's Hospital Boston, Boston, Massachusetts
  • Edited by Frederick J. Suchy, Mount Sinai School of Medicine, New York, Ronald J. Sokol, University of Colorado, Denver, William F. Balistreri, University of Cincinnati
  • Book: Liver Disease in Children
  • Online publication: 18 December 2009
  • Chapter DOI: https://doi.org/10.1017/CBO9780511547409.041
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