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

Pediatr Nephrol. 2006 Oct;21(10):1369-76. doi: 10.1007/s00467-006-0164-9. Epub 2006 Jul 6.

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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Adolescent
  • Calcium / physiology
  • Centrosome / pathology
  • Centrosome / physiology*
  • Child
  • Child, Preschool
  • Cilia / pathology
  • Cilia / physiology*
  • Cyclic AMP / metabolism
  • Humans
  • Kidney Diseases, Cystic / etiology
  • Kidney Diseases, Cystic / genetics
  • Kidney Diseases, Cystic / pathology
  • Kidney Diseases, Cystic / physiopathology*
  • Phenotype*
  • Wnt Proteins / physiology

Substances

  • Wnt Proteins
  • Cyclic AMP
  • Calcium