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Nephronophthisis and Renal–Hepatic–Pancreatic Dysplasia of Ivemark

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Fibrocystic Diseases of the Liver

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

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Summary

Nephronophthisis is a disease of renal tubular dysfunction that progresses to end-stage renal disease; it can occur in combination with abnormalities of other organs including the liver. Growing knowledge of the genes associated with nephronophthisis indicates that the disease is associated with dysfunction of primary cilia and related structures.

Renal–hepatic–pancreatic dysplasia of Ivemark is a rare, typically fatal congenital anomaly sequence, characterized by renal dysplasia, hepatic dysgenesis, and pancreatic fibrosis. Newer data suggest that it, too, is related to abnormalities of cilia and may share gene abnormalities with syndromes associated with nephronophthisis.

Knowledge of the various genes involved in these and other cystic/dysplastic syndromes continues to grow. Diverse mutations in genes associated with the primary cilium can lead to a variety of phenotypes; epistasis and oligogenic inheritance may explain some of the variety in clinical findings.

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Author information

Authors and Affiliations

  1. Division of Pediatric Nephrology, Dialysis, and Transplantation, University of Iowa Children’s Hospital, 200 Hawkins Drive, Iowa City, Iowa, USA

    David A. Myers MD, MS

  2. Division of Nephrology, Seattle Children’s Hospital, University of Washington School of Medicine, Seattle, WA, USA

    Jordan M. Symons MD

Authors
  1. David A. Myers MD, MS
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  2. Jordan M. Symons MD
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Editors and Affiliations

  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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Myers, D.A., Symons, J.M. (2010). Nephronophthisis and Renal–Hepatic–Pancreatic Dysplasia of Ivemark. 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_9

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  • DOI: https://doi.org/10.1007/978-1-60327-524-8_9

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