Primary ciliary dyskinesia

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Description from OMIM

Primary ciliary dyskinesia is a genetically heterogeneous autosomal recessive disorder resulting from loss of function of different parts of the primary ciliary apparatus, most often dynein arms. Kartagener (pronounced KART-agayner) syndrome is characterized by the combination of primary ciliary dyskinesia and situs inversus (270100), and occurs in approximately half of patients with ciliary dyskinesia. Since normal nodal ciliary movement in the embryo is required for normal visceral asymmetry, absence of normal ciliary movement results in a lack of definitive patterning; thus, random chance alone appears to determine whether the viscera take up the normal or reversed left-right position during embryogenesis. This explains why approximately 50% of patients, even within the same family, have situs inversus (Afzelius, 1976; El Zein et al., 2003). Genetic Heterogeneity of Primary Ciliary Dyskinesia Other forms of primary ciliary dyskinesia include CILD2 (606763), caused by mutation in the DNAAF3 gene (614566) on chromosome 19q13; CILD3 (608644), caused by mutation in the DNAH5 gene (603335) on 5p; CILD4 (608646) on 15q13; CILD5 (608647), caused by mutation in the HYDIN gene (610812) on 16q22; CILD6 (610852), caused by mutation in the TXNDC3 gene (607421) on 7p14-p13; CILD7 (611884), caused by mutation in the DNAH11 gene (603339) on 7p21; CILD8 (612274) on 15q24-q25; CILD9 (612444), caused by mutation in the DNAI2 gene (605483) on 17q25; CILD10 (612518), caused by mutation in the KTU gene (612517) on 14q21.3; CILD11 (612649), caused by mutation in the RSPH4A gene (612647) on 6q22; CILD12 (612650), caused by mutation in the RSPH9 gene (612648) on 6p21; CILD13 (613193), caused by mutation in the DNAAF1 gene (613190) on 16q24.1; CILD14 (613807), caused by mutation in the CCDC39 gene (613798) gene on 3q26.33; CILD15 (613808), caused by mutation in the CCDC40 gene (613799) on 17q25.3; CILD16 (614017), caused by mutation in the DNAL1 gene (610062) on 14q24.3; CILD17 (614679), caused by mutation in the CCDC103 gene (614677) on 17q21; CILD18 (614874), caused by mutation in the HEATR2 gene (614864) on 7p22; CILD19 (614935), caused by mutation in the LRRC6 gene (614930) on 8q24; CILD20 (615067), caused by mutation in the CCDC114 gene (615038) on 19q13; CILD21 (615294), caused by mutation in the DRC1 gene (615288) on 2p23; CILD22 (615444), caused by mutation in the ZMYND10 gene (606070) on 3p21; CILD23 (615451), caused by mutation in the ARMC4 gene (615408) on 10p; CILD24 (615481), caused by mutation in the RSPH1 gene (609314) on 21q22; CILD25 (615482), caused by mutation in the DYX1C1 gene (608706) on 15q21; CILD26 (615500), caused by mutation in the C21ORF56 gene (615494) on 21q22; CILD27 (615504), caused by mutation in the CCDC65 gene (611088) on 12q13; CILD28 (615505), caused by mutation in the SPAG1 gene (603395) on 8q22; CILD29 (615872), caused by mutation in the CCNO gene (607752) on 5p15; CILD30 (616037), caused by mutation in the CCDC151 gene (615956) on 19p13.2; CILD32 (616481), caused by mutation in the RSPH3 gene (615876) on 6q25; CILD33 (616726), caused by mutation in the GAS8 gene (605178) on 16q24; CILD34 (617091), caused by mutation in the DNAJB13 gene (610263) on 11q13; CILD35 (617092), caused by mutation in the TTC25 gene (617095) on 17q21; and CILD36 (300991), caused by mutation in the PIH1D3 gene (300933) on Xq22. Ciliary abnormalities have also been reported in association with both X-linked and autosomal forms of retinitis pigmentosa. Mutations in the RPGR gene (312610), which underlie X-linked retinitis pigmentosa (RP3; 300029), are in some instances (e.g., {312610.0016) associated with recurrent respiratory infections indistinguishable from immotile cilia syndrome; see 300455. Afzelius (1979) gave an extensive review of cilia and their disorders. There are also several possibly distinct CILDs described based on the electron microscopic appearance of abnormal cilia, including CILD with transposition of the microtubules (215520), CILD with excessively long cilia (242680), and CILD with defective radial spokes (242670).

Prevalence of clinical parameters (%)

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List of symptoms

Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Edit/add reference
Coughing respiratory 100 % 14656747 2012-05-09
Otitis media nervous 95 % 14656747 2012-05-09
Bronchiectasis respiratory 83 % 14656747 2012-05-09
Bronchiectasis respiratory 80 % 18403663 2012-05-09
Peribronchial thickening respiratory 80 % 18403663 2012-05-09
Mucous plugging respiratory 75 % 18403663 2012-05-09
Situs inversus totalis multi 55 % 14656747 2012-05-09
Sinusitis respiratory 54 % 14656747 2012-05-09
Mosaic perfusion respiratory 45 % 18403663 2012-05-09
Clubbed fingers skeletal 15 % 14656747 2012-05-09

List of references:

Primary ciliary dyskinesia: diagnostic and phenotypic features.
Peadar G Noone, Margaret W Leigh, Aruna Sannuti, Susan L Minnix, Johnny L Carson, Milan Hazucha, Maimoona A Zariwala, Michael R Knowles,

Primary ciliary dyskinesia (PCD) is a genetic disease characterized by abnormalities in ciliary structure/function. We hypothesized that the major clinical and biologic phenotypic markers of the disease could be evaluated by studying a cohort of subjects suspected of having PCD. Of 110 subjects evaluated, PCD was diagnosed in 78 subjects using a combination of compatible clinical features coupled with tests of ciliary ultrastructure and function. Chronic rhinitis/sinusitis (n = 78; 100%), recurrent otitis media (n = 74; 95%), neonatal respiratory symptoms (n = 57; 73%), and situs inversus (n = 43; 55%) are strong phenotypic markers of the disease. Mucoid Pseudomonas aeruginosa (n = 12; 15%) and nontuberculous mycobacteria (n = 8; 10%) were present in older (> 30 years) patients with PCD. All subjects had defects in ciliary structure, 66% in the outer dynein arm. Nasal nitric oxide production was very low in PCD (nl/minute; 19 +/- 17 vs. 376 +/- 124 in normal control subjects). Rigorous clinical and ciliary phenotyping and measures of nasal nitric oxide are useful for the diagnosis of PCD. An increased awareness of the clinical presentation and diagnostic criteria for PCD will help lead to better diagnosis and care for this orphan disease.

American journal of respiratory and critical care medicine - Feb 2004

Structural and functional lung disease in primary ciliary dyskinesia.
Francesca Santamaria, Silvia Montella, Harm A W M Tiddens, Guido Guidi, Valeria Casotti, Marco Maglione, Pim A de Jong,

High-resolution CT (HRCT) scan data on primary ciliary dyskinesia (PCD) related lung disease are scarce.

Chest - Aug 2008