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Impact of Defective Cilia

Defective and dysfunctional functioning in motile and non-motile cilia affects multiple systems, causing blindness, deafness, chronic respiratory infections, kidney disease, heart disease, infertility, obesity and diabetes.  These symptoms have significant impact on those affected; some are devastating, most are life-threatening.

The diagram below indicates the effects and a non-exhaustive summary of some of these symptoms is provided below. For information on known and identified ciliopathy syndromes and diseases, see the Ciliopathies section of this site.

Cognitive impairment

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Retinal degeneration, rod cone dystrophy and retinitis pigmentosa

Cilia are found inside photoreceptors in the eyes. They connect the inner segment to the outer segment and carry proteins made in the inner segment to outer segment. Malfunction stops transport of vital proteins, and the photoreceptors die.

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Cochlea: Hearing loss

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Anosmia

Airway congestion, glue ear, hearing loss

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Craniofacial Abnormalities

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Lung / airway abnormalities

Motile cilia line the respiratory airways, to help clear mucus and dust. As well as primary ciliary dyskinesia, sinusitis, rhinitis, bronchitis and otitis have all been associated with motile cilia dysfunction.

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Congenital heart defects

Cilia are important during development of the heart. Flow of fluid is sensed by cilia leading to changes of cell growth. Failure of cilia leads to left left-right asymmetry, eg situs inversus.

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Thoracic skeleton

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Liver disease

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Pancreatic cysts

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Truncal obesity

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Renal anomalies, eg cystic kidneys

Autosomal dominant polycystic kidney disease (ADPKD), autosomal recessive PKD (ARPKD) and nephronophthisis (NPHP) are the major inherited cystic kidney diseases.

The cilia in the epithelial cells in the kidney point into the urine and sense the flow. This stops cells dividing and send a signal to control urine concentration. When the cilia are defective, there is no signal and too much cell division, resulting in uncontrolled cyst formation.

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Sterility, hypogonadism

Infertility

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Limb: Polydactyly

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Skeletal abnormalities

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