Mechanisms of nephronophthisis and related ciliopathies

Nephron Exp Nephrol. 2011;118(1):e9-14. doi: 10.1159/000320888. Epub 2010 Nov 11.


An emerging group of human genetic diseases termed 'ciliopathies' are caused by dysfunction of two functionally and physically associated organelles, the centrosome and cilium. These organelles are central to perception of the physical environment through detection of a diverse variety of extracellular signals such as growth factors, chemicals, light and fluid flow. Many of the described ciliopathies display multi-organ involvement, with renal and retina being the most commonly affected. Nephronophthisis is a recessive disorder of the kidney that is the leading cause of end-stage renal failure in children. Through positional cloning, many of the causative mutations have been mapped to genes involved in centrosome and cilia function. In this review, we discuss the identified causative mutations that give rise to nephronophthisis and how these are related to the disease etiology in both the kidney and other organs.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Adaptor Proteins, Signal Transducing / genetics
  • Centrosome / physiology
  • Cilia / physiology*
  • Humans
  • Kidney Diseases, Cystic / congenital
  • Kidney Diseases, Cystic / genetics
  • Kidney Diseases, Cystic / physiopathology
  • Membrane Proteins / genetics
  • Mutation / genetics


  • Adaptor Proteins, Signal Transducing
  • Membrane Proteins
  • NPHP1 protein, human

Supplementary concepts

  • Nephronophthisis, familial juvenile