Primary ciliary dyskinesia
From Wikipedia, the free encyclopedia
| ICD-10 | G24.9 |
|---|
| ICD-10 | Q89.3 |
|---|---|
| ICD-9 | 759.3 |
Primary ciliary dyskinesia (PCD), also known as immotile ciliary syndrome, is a rare autosomal recessive genetic disorder caused by a defect in the action of the tiny hairs (cilia) lining the respiratory tract. Specifically, it is a defect in a gene coding for left-right dynein (lrd), a key structural protein in cilia.[1]
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[edit] Classification
When accompanied by the triad of situs inversus (mirroring of the internal organs), chronic sinusitis, and bronchiectasis, it is known as Kartagener syndrome. Use of immotile ciliary syndrome is no longer favoured, as sperm in affected men often have some motility - the term was coined in the mistaken belief that they had none.
[edit] Signs and symptoms
The main consequence of impaired ciliary function is reduced or absent mucus clearance in the lungs, and susceptibility to chronic, recurrent respiratory infections, including sinusitis, bronchitis, pneumonia, and otitis media. The disease typically affects children up to 18 years of age, but the defect associated with it has a variable clinical impact on disease progression in adults as well. Many patients experience hearing loss and a poor sense of smell, and infertility is common. Clinical progression of the disease is variable with lung transplantation required in severe cases. For most patients, aggressive measures to enhance clearance of mucus, prevent respiratory infections, and treat bacterial superinfections are recommended. Although the true incidence of the disease is unknown, it is estimated to be 1 in 32,000[2], although the actual incidence may be as high as 1 in 15000.
[edit] Causes
The dysfunction of the cilia begins during the embryologic phase of development. Since the cilia aid in the movement of growth factors resulting in the normal rotation of the internal organs during early embryological development, 50% of these individuals will develop situs inversus, as the laterality of the internal organs is determined by chance.
[edit] History
The classical triad was first described by A. K. Zivert in 1904 while Kartagener published his first report in 1933.
[edit] Footnotes
- ^ Chodhari R, Mitchison HM, Meeks M. Cilia, primary ciliary dyskinesia and molecular genetics. Paediatr Respir Rev. 2004 Mar;5(1):69-76.
- ^ Ceccaldi PF, Carre-Pigeon F, Youinou Y, Delepine B, Bryckaert PE, Harika G, Quereux C, Gaillard D. [Kartagener's syndrome and infertility: observation, diagnosis and treatment] J Gynecol Obstet Biol Reprod (Paris). 2004 May;33(3):192-4.
[edit] References
- Zivert, A.K. Über einen Fall von Bronchiectasie bei einem Patienten mit situs inversus viscerum. Berliner klinische Wochenschrift, 1904, 41: 139-141.
- Kartagener, M. Zur Pathogenese der Bronchiektasien: Bronchiektasien bei Situs viscerum inversus. Beiträge zur Klinik der Tuberkulose, 1933, 83: 489-501.
- Afzelius, B., 1976. A human syndrome caused by immotile cilia. Science 193, 317–319.
- Coren ME, Meeks M, Morrison I, Buchdahl RM, Bush A. Primary ciliary dyskinesia: age at diagnosis and symptom history. Acta Paediatr. 2002;91(6):667-9.
[edit] See also
- Secondary ciliary dyskinesia
[edit] External links
- Mendelian Inheritance in Man (OMIM) 244400 (Kartagener syndrome)
- Mendelian Inheritance in Man (OMIM) 242650 (Primary ciliary dyskinesia)
- http://www.pcdforum.com/
- Kartagener's syndrome on Who Named It
This article contains some text from the public domain source "National Heart, Lung, and Blood Institute Rare Diseases Report FY 2001" available at http://www.nhlbi.nih.gov/resources/docs/raredisrpt01.htm Please adapt as necessary.
