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Patients with primary ciliary dyskinesia exhibit a wide range of defects in ciliary ultrastructure and motility, which ultimately impairs ciliary beating and mucociliary clearance. The most common defect, first described by Afzelius, is a reduction in the number of dynein arms, which decreases the ciliary beat frequency.

Sturgess et al [] described how the radial spoke, which serves to translate outer microtubular sliding into cilial bending, was absent in some patients with primary ciliary dyskinesia. Cilia in other patients lacked central tubules; however, instead of the central tubules, an outer microtubular doublet transposed to the cell of the axoneme was present that displayed an abnormal 8+1 doublet-to-tubule pattern. Both the radial spoke and the transposed doublet defects impaired mucociliary clearance.

Other ciliary defects include an abnormal basal cell apparatus with giant roots and double feet, cilia lacking all internal microtubular structures, and even cilia twice the normal length that beat in an uncoordinated undulating fashion. Pedersen [] compared the type of ultrastructural defect to ciliary motility and found that dynein defects caused hypomotility and microtubular defects caused asynchrony. He also found that normal ciliary ultrastructure occasionally was associated with hypermotility or inefficient ciliary trembling.

Some patients with clinical features of primary ciliary dyskinesia have a ciliary ultrastructure that appears normal, but their arrangement and beat direction is disoriented, which causes inefficient mucociliary transport. These findings illustrate the importance of analyzing ciliary motility and ultrastructure when considering a diagnosis of primary ciliary dyskinesia.

Primary ciliary dyskinesia tissues have also been characterized by impaired chloride ion transport currents. This impaired current has been shown to persist even after application of a cAMP-elevating agonist. []

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The cause of primary ciliary dyskinesia is genetic, with an autosomal recessive inheritance pattern. Genome analysis has found primary ciliary dyskinesia to be genetically heterogenous. Genes and on bands 5p15.1 and 9p13,3 respectively, are known to cause primary ciliary dyskinesia. Both genes encode for dynein.There are more than 200 genes, however, that are predicted to be involved in cilia biology and may play a role in primary ciliary dyskinesia and other ciliopathies.

Recently a gene protein, CCDC40, has been characterized as playing an essential role in correct left-right patterning in mouse, zebrafish, and humans. In mouse and zebrafish, CCDC40 is expressed in tissues that contain motile cilia. Mutations in this protein result in cilia with reduced ranges of motility and likely result in a variant of primary ciliary dyskinesia characterized by misplacement of the central pair of microtubules and defective assembly of inner dynein arms and dynein regulatory complexes.

Onoufriadis et al have described loss-of-function mutations in CCDC114 as causing primary ciliary dyskinesia with laterality malformations. The result of these mutations is a loss of the outer dynein arms. Fertility is apparently not greatly affected by CCDC114 deficiency.

Adenylate kinase type 7 (AK7), the mediator of the reaction of ADP to ATP and AMP, is also diminished significantly in patients with primary ciliary dyskinesia compared with healthy controls. AK7 expression has also been correlated with ciliary beat frequency in this patient population.

Table. Mutations in the Genes that Cause Human Primary Ciliary Dyskinesia

MIM number is from the Leather Statement Clutch Water Blue by VIDA VIDA 5QiDm7
Web site, which is a continuously updated catalog of human genes, genetic disorders, and traits, with particular focus on the molecular relationship between genetic variation and phenotype expression.

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US frequency

The frequency of Kartagener syndrome is 1 case per 32,000 live births. Situs inversus occurs randomly in half the patients with primary ciliary dyskinesia; therefore, for every patient with Kartagener syndrome, another patient has primary ciliary dyskinesia but not situs inversus.

Sex

No sex predilection exists.

Age

Clinical manifestations of chronic sinusitis, bronchitis, and bronchiectasis are more severe during the first decade of life but remit somewhat by the end of adolescence.

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Chronic childhood infections can be very debilitating, but the range and severity of clinical symptoms is wide. In severe cases, the prognosis can be fatal if bilateral lung transplantation is delayed.Fortunately, primary ciliary dyskinesia and Kartagener syndrome usually become less problematic near the end of the patient's second decade, and many patients have near normal adult lives. The prognosis of patients with Kartagener syndrome was outlined in a longitudinal study, which measured long-term outcomes and pulmonary function test results. Tests were conducted on an interval basis in a cohort of 74 patients. The study found that patients are at risk for decreased pulmonary function. The study did not come to a firm conclusion on age correlation with lung deterioration or disease progression.However, cross-sectional data suggest that spirometry worsens in patients over time.

Clinical manifestations include chronic upper and lower respiratory tract disease resulting from ineffective mucociliary clearance. Males demonstrate infertility secondary to immotile spermatozoa.

Upper airway

Patients may exhibit chronic, thick, mucoid rhinorrhea from early in childhood. Examination usually reveals pale and swollen nasal mucosa, mucopurulent secretions, and an impaired sense of smell. Nasal polyps are noted in 30% of affected individuals.

Sinonasal disease in primary ciliary dyskinesia has been poorly studied; however, these patients often have recurrent chronic sinusitis with sinus pressure headaches in the maxillary and periorbital regions. Sinus radiographs (which largely have been supplanted by CT scans) typically demonstrate mucosal thickening, opacified sinus cavities, and aplastic or hypoplastic frontal and/or sphenoid sinuses.Symptoms usually improve with antibiotic therapy but have a propensity for rapid recurrence. It appears that patients with chronic rhinosinusitis (CRS) may benefit from long-term macrolide therapy and endoscopic sinus surgery (ESS) in recalcitrant disease. Therapies targeted at improving mucociliary clearance have not been tested specifically in primary ciliary dyskinesia.It has been shown that up to 59% of patients have recurring episodes of sinusitis and 69% of these patients require surgical intervention.

Recurrent otitis media is a common manifestation of primary ciliary dyskinesia. Examination may reveal a retracted tympanic membrane with poor or absent mobility and a middle-ear effusion. Further testing usually demonstrates a flat tympanogram and bilateral conductive hearing loss secondary to thick middle-ear effusion. Many patients undergo repeated tympanostomy tube insertion, often complicated by chronic suppurative otitis media. Campbell et al found that ventilation tube insertion improves hearing in primary ciliary dyskinesia, but may lead to a higher rate of otorrhea when compared with the general population.Other associated otologic disorders may include tympanosclerosis, cholesteatoma, and keratosis obturans.

Lower respiratory tract

Chronic bronchitis, recurrent pneumonia, and bronchiectasis are common conditions associated with primary ciliary dyskinesia. Patients presenting with bronchiectasis should be evaluated for Kartagener syndrome. Bronchiectasis usually occurs in the lower lobes in patients with Kartagener syndrome, while patients with cystic fibrosis have bronchiectasis predominantly in the upper lobes.

Chest radiographs may illustrate bronchial wall thickening (earliest manifestation), hyperinflation, atelectasis, bronchiectasis, and situs inversus (in 50% of patients with primary ciliary dyskinesia). High-resolution CT (HRCT) scanning, spirometry, and plethysmography may also be performed. Pifferi et al found that plethysmography better predicted HRCT abnormalities than spirometry by allowing recognition of different severities of focal air trapping, atelectasis, and extent of bronchiectasis in patients with primary ciliary dyskinesia.Whether it might be a useful test to define populations of patients with primary ciliary dyskinesia who should or should not have HRCT scans requires further longitudinal studies. Magnin et al evaluated the longitudinal relationships between lung function tests (LFTs) and chest HRCT in children with primary ciliary dyskinesia and found significant correlation. It is possible that lung function follow-up can be used to reduce CT frequency to help minimize the radiation exposure in these children.

Obstructive lung disease may be another component of Kartagener syndrome symptomatology. It probably results from elevated levels of local inflammatory mediators in a chronically irritated airway.

Other features

Other features include digital clubbing, male infertility, and diminished female fertility. Primary ciliary dyskinesia has been associated with esophageal problems and congenital cardiac abnormalities.

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References

Kartagener M. Zur pathogenese der bronchiectasien. I Mitteilung:bronchiectasien bei situs viscerum inversus. . 1933. 83:498-501.

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Biopsy should be performed on any oral lesion that persists despite removal of any irritative stimulus.

Biopsy is indicated if mucosal lesion findings suggest malignancy as follows: erythroplakia, leukoplakia, induration or fixation to deeper tissues, rapid growth, friability, or ulceration. [, , ]

Biopsy samples of tonsillar lesions may be best obtained through formal tonsillectomy, particularly if neoplasm is the concern.

In adults, tonsil ulcerations, friability, or induration are concerning findings and should be biopsied.

In adult patients, particularly those exposed to tobacco or alcohol, tonsillectomy is advised. However, tonsil extranodal non-Hodgkin lymphoma does not have the same association with these exposures. Evidence of a role for Mens Larriy Derbys Ted Baker PsAHvS9v7
(HPV; particularly HPV-16) in tonsillar squamous cell carcinoma has grown.Some series indicate greater than 50% of tonsillar carcinoma contain HPV-16 genetic material and often do not have the strong association with tobacco that many other head and neck squamous cell carcinomas do.

Asymmetry of the tonsils has traditionally been considered an indication for tonsillectomy in order to pathologically evaluate for potential neoplasm as the source of the asymmetry. However, some studies have shown that most visualized tonsillar asymmetry is an optical illusion caused by tonsillar fossa depth.When tonsillectomy is performed for asymptomatic tonsillar asymmetry, only 5% of patients will have malignant findings on pathology results.Others have noted even lower rates.Therefore, some have advocated a period of conservative management and observation in patients with no risk factors for malignancy and no other abnormal head and neck examination findings.

In patients with cervical squamous cell carcinoma metastasis with unknown primary tumor ( Black Satin Jewel Bag Pinko RJMlL
), biopsies of the oropharynx are included in the evaluation. Most unknown primary cancers reside within the Waldeyer ring, and biopsies of the nasopharynx, base of the tongue, and tonsils are recommended. Some controversy exists as to the necessary extent of this biopsy, ranging from focal biopsy of abnormal findings to unilateral or bilateral tonsillectomy. "Blind" focal biopsy of the tonsils is not recommended, with a positive rate of only 13% vs 39% found on formal tonsillectomy. [] Some authors advocate bilateral tonsillectomy, given a 10% chance of the primary cancer being contralateral to the neck disease, [, ] whereas others recommend it only in bilateral neck disease. []

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The decision to proceed with biopsy in the following circumstances must be individualized to the patient’s findings and the ability of the surgeon to minimize morbidity. The following may be contraindications to biopsy, or they may alter the circumstances of the biopsy (office vs operating room):

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