Ciliary function in health and disease.
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Bronchitis↗
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Immotile-cilia syndrome with azoospermia: a case report and review of the literature.
A case of immotile-cilia syndrome associated with azoospermia is presented. This diagnosis is based on a typical history of bronchitis, sinusitis, situs inversus, impaired nasal mucociliary clearance and characteristic ultrastructural defect in the respiratory tract cilia and in the sperm tail. Semen analysis showed azoospermia with no evidence of obstruction in the epididymis or vas deferens; there was normal spermatogenesis.
Adult↗
Respiratory infections may reflect deficiencies in host defense mechanisms.
Serious respiratory tract infections are rare in the healthy individual and most of the nuisance morbidity that occurs results from nasopharyngeal viral infections that many people get once or twice a year. The economic impact from these upper respiratory tract infections is appreciable, however, in terms of absenteeism from school or work, but unfortunately there is little that can be done to ward them off in a practical way. Pneumonia is an infrequent lifetime experience for most non-smoking adults and when it occurs, unusual circumstances may pertain--a particularly virulent microorganism is in circulation, or perhaps one has been exposed to a newly recognized germ, such as has occurred with Legionella species in the past 8 years or so. What protects us the great majority of the time is a very effective network of respiratory tract host defenses. These include many mechanical and anatomical barrier mechanisms concentrated in nose and throat; mucociliary clearance, coughing and mucosal immunoglobulins in the conducting airways and in the air-exchange region of the alveolar structures, phagocytes, opsonins, complement, surfactant and many other factors combine to clear infectious agents. The ability to mount an inflammatory response in the alveoli may represent the maximal and ultimate expression of local host defense. In some way these host defenses are combating constantly the influx of micro-organisms, usually inhaled or aspirated into the airways, that try to gain a foothold on the mucosal surface and colonize it. But many general changes in overall health such as debility, poor nutrition, metabolic derangements, bone marrow suppression and perhaps aging promote abnormal microbial colonization and undermine the body's defenses that try to cope with the situation. It is a dynamic struggle. The departure from normal respiratory health may not be obvious immediately to the patient or to the physician and repeated episodes of infection or persisting symptoms of cough, expectoration and sinus or ear infections may develop before serious assessment of the situation is taken and appropriate diagnosis gotten underway. Obvious explanations for respiratory infections may be apparent and, nowadays, side effects from antineoplastic chemotherapy or immunosuppressive therapy for a variety of diseases that create an immunocompromised host are common. In a few subjects, especially young adults who present with a cumulative history of frequent but mild infections in childhood and youth, a subtle deficiency in host defenses may exist and have been partially masked because of attentive pediatric medical care and prompt use of broad spectrum antibiotics.(ABSTRACT TRUNCATED AT 400 WORDS)
Adult↗
Alignment of cilia in immotile-cilia syndrome.
Alignment of cilia in nasal epithelial cells from eight human subjects suffering from immotile-cilia syndrome was compared with that of cells from five control subjects. Individual cilia were assessed according to the orientation of their basal feet. The range of orientation of basal feet on a single cell varied from 26 degrees to 261 degrees and 54 degrees to 275 degrees in controls and patients respectively. Less than 10% of the cells from each group supported cilia that were aligned randomly. Alignment was worse in subjects with immotile-cilia syndrome but this could well have been due to secondary characteristics of the disease, such as common viral infection. Very accurate alignment of mucus-propelling cilia may be unnecessary. Measurements from control subjects and some invertebrates suggest that ranges of 140 degrees are common and do not seriously impair mucus propulsion.
Cilia↗
Nine Japanese patients with immotile-dyskinetic cilia syndrome: an ultrastructural study using tannic acid-containing fixation.
Respiratory cilia and sperm flagella of nine Japanese patients with immotile-dyskinetic cilia syndrome were studied ultrastructurally by using a tannic acid-containing fixative. Respiratory cilia from two female patients with Kartagener's syndrome and one male patient with situs inversus and sinobronchitis were completely immotile and lacked both dynein arms. However, approximately 30% of the spermatozoa from the male patient were weakly motile. In four patients with immotile cilia syndrome without Kartagener's triad, immotile respiratory cilia generally lacked the inner dynein arms. Two clinically unusual cases, an 11-year-old boy and a 29-year-old woman with prolonged saccharin test, recurrent bronchitis, and bronchiectasia, possessed motile respiratory cilia. Ultrastructurally, both dynein arms were normal, but numerous defective central pairs (more than 50% and 70%, respectively) were seen, and the defect in the second case was similar to the transposition of microtubules reported by Sturgess et al (N Engl J Med 303:318-322, 1980). However, defects in the first case were unique and may be congenital. We propose a new type of dyskinetic cilia syndrome with defective central pairs. Additionally, nasal cilia from a 35-year-old man with immotile cilia syndrome contained excess large singlets within ciliary axonemes consisting of 17 protofilaments.
Adult↗
Sinusitis in adults.
Sinusitis in adults is being increasingly recognized as a common clinical entity. To protect against infection of the paranasal sinuses, patent ostia, mucous of the proper viscosity, and actively beating cilia are necessary. The superior placement of the maxillary ostia predisposes to maxillary sinusitis. A number of surgical procedures are available to treat chronic sinusitis that does not respond to appropriate medical therapy. The recently introduced technique of endoscopic surgery of the sinuses shows great promise. The association of sinusitis and bronchial asthma is well recognized, but causality is more difficult to prove. There is suggestive evidence in both children and adults that medical or surgical treatment of underlying sinusitis frequently improves the asthmatic state, but well-designed prospective studies are needed that control or measure relevant variables.
Adult↗
Upper airway complications of cigarette smoking.
Passive cigarette smoking is becoming increasingly implicated in upper respiratory tract infections. Some 9 million to 12 million children have significant exposure to cigarette smoke, which may result in pathologic changes in mucociliary transport and cellular composition of the respiratory tract. The physiologic changes related to chronic smoke exposure have been implicated as a risk factor for otitis media and bronchitis. Currently, the cellular effects of cigarette smoke or mucosa can only be reversed or eliminated with avoidance. The use of intranasal steroids or cromolyn sodium, in addition to antibiotic therapy, when an infection is present may reduce the severity or incidence of disease.
Adult↗
The computed tomography mucous bronchogram sign.
Mucous secretions filling the bronchial tree may be identified on computed tomography (CT) as low-density, treelike branching structures within consolidated or collapsed lungs similar to air bronchograms. These mucous bronchograms may occur from mucoid impaction of the bronchi distal to an obstructing lesion of the bronchus, most notably bronchogenic carcinoma, and from conditions that cause impaired mucociliary transport. In most cases, thin-section CT (5 mm) will demonstrate the presence or absence of an obstructing tumor involving the bronchus and will allow a correct assessment as to the cause of the mucous bronchograms; however, on occasion mucus within the central bronchi may result in a false-positive CT diagnosis of obstructing tumor. The demonstration of mucous bronchograms within a thoracic mass indicates that the mass is consolidated or collapsed pulmonary tissue and allows distinction from pleural disease.
Bronchiectasis↗
The immotile-cilia syndrome in a newborn infant.
A newborn infant was suspected to have the immotile-cilia syndrome. He had situs inversus, atelectasis and other pulmonary changes. A biopsy from the nasal mucosa at the age of 21 months confirmed the diagnosis and showed a lack of ciliary orientation and absent dynein arms. Chymotrypsin values, sweat test and most immunoglobulins were normal. The boy is now three years old. So far he has had rather mild respiratory symptoms. The importance of early diagnosis for management and prognosis is stressed.
Age Factors↗
The immotile cilia syndrome--one cause of persistent upper respiratory tract infection.
Four patients with persistent recurrent upper respiratory tract infections are presented. Electron microscopic studies of respiratory mucosal biopsies from these patients reveal ultrastructural abnormalities of cilia consisting of partial to complete loss of dynein arms, radial spoke disruption, and compound cilia. The concept of immotile cilia as an important cause of recurrent infections is receiving more attention. This study stresses the need for simple, rapid screening tests for cilial activity followed by electron microscopic evaluation in selected cases.
Biopsy↗
Clinical and ultrastructural correlations in nasal mucociliary function observed in children with recurrent airways infections.
A study was made of 106 children between 1 and 15 years of age (mean 6 years) with recurrent upper and lower airways infections since birth. Nasal mucociliary transport (NMT) velocity was determined in all subjects by the Tc99m-labeled seroalbumin technique. In 42 children, NMT was found to be altered. In this group of patients the technique was repeated in a period of between 1 and 2 years later. In 23 cases (55%) transport had normalized, while in 19 (45%) it remained altered. Recurrent pneumonia and constant rhinorrhea were more frequent in this group. Situs inversus was only detected in 2 of these patients. Pathology showed ciliary ultrastructure, the absence of dynein arms and microtubule alterations. The absence of cilia was observed in some patients. Normal cilia were also encountered in children with persistently altered nasal mucociliary transport.
Adolescent↗
Steatosis associated with immotile cilia syndrome: an unrecognized relationship?
The present study deals with a case of hepatic parenchymal steatosis in a child with primary ciliary dyskinesia (immotile cilia syndrome) well documented by functional and ultrastructural evaluation of the ciliary epithelia. Hepatic steatosis was associated with ultrastructural evidence of retention of material either in the cisternae of the endoplasmic reticulum or in proximity of the Golgi apparatus of hepatocytes. It is suggested that the absence of dynein in the axoneme is probably part of a diffuse genetic defect which may extend to cytoplasmic, non axonemal, dynein and lead to a disturbance of various microtubule-dependent cell activities.
Biopsy, Needle↗
Cilia-lacking respiratory cells in ciliary aplasia.
This report describes the ultrastructural alterations observed in the nasal and bronchial mucosa of an 11-yr-old male suffering from immotile cilia syndrome (ICS). The morphological features observed in this patient are consistent with a ciliary aplasia. In fact, ciliated cells appeared to be replaced by columnar cells lacking cilia and basal bodies, and bearing on their surface cilium-like projections without any internal axonemal structure. In spite of the absence of basal bodies, centrioles, and kinocilia, these cells unexpectedly showed mature striated roots and centriolar precursor material scattered throughout the apical cytoplasm. These data suggest that control over basal body assembly is distinct from control over striated root formation. The presence of the above-reported structures in cells otherwise presenting many morphological features of normal ciliated cells is discussed on the basis of current knowledge of respiratory cilia biogenesis.
Bronchi↗
The end organ defect in cystic fibrosis; a hypothesis: disinhibited inositol cycle activation?
Activation of the inositol cycle by a factor capable of by-passing the normal controls on exocrine secretion by an interaction with a coupling protein could produce effects similar to a calcium ionophore or the ciliary dyskinesia factor. The chloride permeability defect may represent a secondary adaptive change, able to limit the consequences of this via an acid shift in intracellular pH. The model predicts that lithium treatment would limit the effects of the disease.
Blood Proteins↗
The ciliary necklace--a transmission electron microscopic study using tannic acid-containing fixation.
Human respiratory cilia, including those in seven cases of immotile cilia syndrome, were examined by transmission electron microscopy after tannic acid-containing fixation. This fixation method is useful for ultrastructural observation of unit membranes and of the dynein arms and protofilaments of cilia. In addition, intramembrane particles and electron-dense strands were also demonstrated in the neck of the cilia. These structures may correspond to the ciliary necklace, which has been demonstrated by the freeze-etch technique. In high-magnification electron micrographs, the intramembrane particles were 10 nm in diameter and the necklace spacing was about 30 nm in human respiratory cilia. Prior to this study, no reports on ultrastructural abnormalities of the ciliary necklace in humans had appeared, probably because of technical problems with tissue preparation. Therefore tannic acid-containing fixation appears to be useful for ultrastructural observation of the ciliary necklace.
Adult↗
Primary ciliary dyskinesia (the immotile cilia syndrome).
OBJECTIVE: The purpose of this review is to familiarize the reader with the genetic aspects, clinical manifestations, diagnostic techniques and management of the primary ciliary dyskinesia syndrome. Further, this article illustrates some unusual features of this syndrome and discusses some speculative hypotheses concerning its pathogenesis and clinical presentation. DATA SOURCES: The bibliography includes references in English as well as some references of historical interest in German. Both human and veterinary literature are quoted. Sources included computerized bibliographic searches of recent literature and reviews of literature. STUDY SELECTION: Selection of papers was made based on their historic importance in the definition and characterization of the disease, and on reviews of large bodies of novel or interesting information. Some review papers were not included to avoid repetition. RESULTS: Although the incidence of primary ciliary dyskinesia is low, the inclusion of this condition in the differential diagnosis of chronic and recurrent sinobronchial disease in children and older individuals is very common. Primary ciliary dyskinesia should be suspected in individuals who present chronic respiratory symptoms already in the neonatal period, develop profuse, chronic mucopurulent rhinorrhea, and chronic otitis media and sinusitis. Chronic cough, obstructive lung disease, and bronchorrhea associated with the aforementioned manifestations should also make clinicians suspect this syndrome. Male sterility is almost universally present and situs inversus is present in 50% of affected persons. The diagnosis of primary ciliary dyskinesia is clinical and is confirmed by studies of ciliary motility and ultrastructure of the respiratory mucosa. Management is directed to microbial suppression by frequent antibiotic administration, and to clearing of retained secretions. CONCLUSIONS: The diagnosis of primary ciliary dyskinesia requires familiarity with the clinical picture and the specific techniques of identification. Although the basic mechanism of disease is known, the molecular genetics of primary ciliary dyskinesia and the causes for the phenotypic variability remain to be explained. Future research should be directed to the identification of the gene(s) responsible for the manifestations of the disease and to effective methods of activation, in vivo, of dysfunctional cilia.
Ciliary Motility Disorders↗
[Ciliary dyskinesia, bronchopulmonary manifestations].
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Bronchiectasis↗