Ciliary syndromes and treatment

Pathol Res Pract. 2008;204(2):77-88. doi: 10.1016/j.prp.2007.10.013.

Abstract

Abnormal visceral patterning has been known for centuries. However, it has not been associated with ciliary dysfunction until recently. Overlapping clinical entities including situs inversus, certain infertility disorders, as well as chronic respiratory infections have their roots in abnormal ciliary function. Current research focuses on causative factors and genes involved in signal transduction pathways that define ciliary function and structure, as well as treatment. In this review, attempts are made to outline selected, yet key topics related to ciliary function in health and disease.

Publication types

  • Review

MeSH terms

  • Animals
  • Bardet-Biedl Syndrome / pathology
  • Bardet-Biedl Syndrome / therapy
  • Body Patterning
  • Cilia / pathology*
  • Ciliary Motility Disorders / diagnosis
  • Ciliary Motility Disorders / genetics
  • Ciliary Motility Disorders / pathology
  • Ciliary Motility Disorders / therapy*
  • Humans
  • Hydrocephalus / pathology
  • Hydrocephalus / therapy
  • Infertility, Male / pathology
  • Infertility, Male / therapy
  • Kartagener Syndrome / pathology
  • Kartagener Syndrome / therapy
  • Male
  • Mice
  • Orofaciodigital Syndromes / pathology
  • Orofaciodigital Syndromes / therapy
  • Polycystic Kidney Diseases / pathology
  • Polycystic Kidney Diseases / therapy
  • Retinitis Pigmentosa / pathology
  • Retinitis Pigmentosa / therapy
  • Sperm Tail / pathology*