Current insights into renal ciliopathies: what can genetics teach us?

Pediatr Nephrol. 2013 Jun;28(6):863-74. doi: 10.1007/s00467-012-2259-9. Epub 2012 Jul 25.


Ciliopathies are a group of clinically and genetically overlapping disorders whose etiologies lie in defective cilia. These are antenna-like organelles on the apical surface of numerous cell types in a variety of tissues and organs, the kidney included. Cilia play essential roles during development and tissue homeostasis, and their dysfunction in the kidney has been associated with renal cyst formation and renal failure. Recently, the term "renal ciliopathies" was coined for those human genetic disorders that are characterized by nephronophthisis, cystic kidneys or renal cystic dysplasia. This review focuses on renal ciliopathies from a human genetics perspective. We survey the newest insights with respect to gene identification and genotype-phenotype correlations, and we reflect on candidate ciliopathies. The opportunities and challenges of next-generation sequencing (NGS) for genetic renal research and clinical DNA diagnostics are also reviewed, and we discuss the contribution of NGS to the development of personalized therapy for patients with renal ciliopathies.

Publication types

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

MeSH terms

  • Cilia / physiology*
  • Genetic Association Studies
  • Humans
  • Kidney Diseases, Cystic / congenital
  • Kidney Diseases, Cystic / genetics*
  • Kidney Diseases, Cystic / therapy
  • Mutation
  • Polymorphism, Single Nucleotide
  • Precision Medicine
  • Renal Insufficiency / etiology

Supplementary concepts

  • Nephronophthisis, familial juvenile