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Bardet–Biedl and Jeune Syndromes

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Fibrocystic Diseases of the Liver

Part of the book series: Clinical Gastroenterology ((CG))

Summary

Congenital fibrocystic liver diseases (CFLD) are a heterogeneous group of diseases that include a spectrum of features ranging from hepatic fibrosis, intrahepatic biliary tract dilatation to extrahepatic biliary tract dilatation, and liver cysts. CFLD frequently occur in association with renal disease such as autosomal recessive and autosomal dominant polycystic kidney disease (ARPKD, ADPKD) and nephronophthisis (NPHP). Recent insight into the molecular mechanisms underlying both disorders has demonstrated an important role for the primary cilium, a cellular sensory organelle. Cholangiocyte cilia play a regulatory role in bile formation through osmosensory, chemosensory, and mechanosensory functions while dysfunction of cholangiocyte cilia can result in cystic liver disease. Mutations in genes encoding components of the primary cilium can result in pleiotropic phenotypes such as that seen in Bardet–Biedl syndrome (BBS) and Jeune’s asphyxiating thoracic dystrophy (JATD). In the following chapter, we present an overview of the clinical features of both these disorders and provide a summary of recent advances in the molecular genetics underlying both of these disorders.

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Authors and Affiliations

  1. Molecular Medicine Unit, Institute of Child Health, London, WC1N 1EH, UK

    Aoife M. Waters MD, Msc, MRCP & Philip L. Beales MD, Bsc, FRCP

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  1. Aoife M. Waters MD, Msc, MRCP
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  2. Philip L. Beales MD, Bsc, FRCP
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  1. School of Medicine, Children's Hospital & Regional, University of Washington, Sand Point Way NE. 4800, Seattle, 98105, USA

    Karen F. Murray

  2. St. Paul University Hospital, Harry Hines Blvd. 5939, Dallas, 75390-9258, USA

    Anne M. Larson

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Waters, A.M., Beales, P.L. (2010). Bardet–Biedl and Jeune Syndromes. In: Murray, K., Larson, A. (eds) Fibrocystic Diseases of the Liver. Clinical Gastroenterology. Humana Press. https://doi.org/10.1007/978-1-60327-524-8_11

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