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Renal cystic diseases: diverse phenotypes converge on the cilium/centrosome complex

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Abstract

Inherited renal cystic diseases constitute an important set of single-gene disorders that frequently progress to end stage renal disease (ESRD). Transmitted as autosomal dominant, autosomal recessive, or X-linked traits, renal cystic diseases are phenotypically diverse with respect to age at onset, rate of disease progression, and associated extra-renal manifestations. These disorders involve defects in a set of gene products commonly referred to as cystoproteins that, while functionally distinct, appear to co-localize, at least in part, with the cilia/centrosome complex. Therefore, investigations are increasingly focused on the role of this complex in the pathogenesis of renal cystic disease. Sorting out the functional relationship between these cystoproteins and the cilia/centrosome complex will undoubtedly provide a better understanding of renal cystic disease pathogenesis and, potentially, identify new targets for therapeutic intervention.

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Acknowledgment

Supported in part by a Clinical Scientist Award in Translational Research from the Burroughs-Wellcome Foundation.

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Authors and Affiliations

  1. Departments of Medicine, Pediatrics, and Genetics, University of Alabama at Birmingham, Birmingham, AL, USA

    Lisa M. Guay-Woodford

  2. Division of Genetic and Translational Medicine, University of Alabama at Birmingham, Kaul 740, 1530 3rd Avenue South 19th Street, Birmingham, AL, 35294, USA

    Lisa M. Guay-Woodford

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  1. Lisa M. Guay-Woodford
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Correspondence to Lisa M. Guay-Woodford.

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Guay-Woodford, L.M. Renal cystic diseases: diverse phenotypes converge on the cilium/centrosome complex. Pediatr Nephrol 21, 1369–1376 (2006). https://doi.org/10.1007/s00467-006-0164-9

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  • DOI: https://doi.org/10.1007/s00467-006-0164-9

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