Spectrum of clinical diseases caused by disorders of primary cilia

• Published in: Proceedings of the American Thoracic Society Vol. 8; no. 5; pp. 444 - 450
• Main Authors: Ware, Stephanie M, Aygun, Meral Gunay, Hildebrandt, Friedhelm
• Format: Journal Article
• Language: English
• Published: United States American Thoracic Society 15.09.2011
• Subjects: Cerebellar Diseases - complications; Ciliary Motility Disorders - complications; Ciliary Motility Disorders - genetics; Ciliary Motility Disorders - physiopathology; Genome-Wide Association Study; Heterotaxy Syndrome - complications; Humans; Kidney Diseases - complications; Liver Diseases - complications; Primary Ciliary Dyskinesia and Overlapping Syndromes
• ISSN: 1546-3222; 1943-5665
• DOI: 10.1513/pats.201103-025sd

The ciliopathies are a category of diseases caused by disruption of the physiological functions of cilia. Ciliary dysfunction results in a broad range of phenotypes, including renal, hepatic, and pancreatic cyst formation; situs abnormalities; retinal degeneration; anosmia; cerebellar or other brain anomalies; postaxial polydactyly; bronchiectasis; and infertility. The specific clinical features are dictated by the subtype, structure, distribution, and function of the affected cilia. This review highlights the clinical variability caused by dysfunction of motile and nonmotile primary cilia and emphasizes the genetic heterogeneity and phenotypic overlap that are characteristics of these disorders. There is a need for additional research to understand the shared and unique functions of motile and nonmotile cilia and the pathophysiology resulting from mutations in cilia, basal bodies, or centrosomes. Increased understanding of ciliary biology will improve the diagnosis and management of primary ciliary dyskinesia, syndromic ciliopathies, and cilia-related cystic diseases.