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PubMed2004

Primary ciliary dyskinesia: genes, candidate genes and chromosomal regions.

Primary ciliary dyskinesia (PCD) is a multisystem disease characterized by recurrent respiratory tract infections, sinusitis, bronchiectasis and male subfertility, associated in about 50% patients with situs inversus totalis (the Kartagener syndrome). The disease phenotype is caused by ultrastructural defects of respiratory cilia and sperm tails. PCD is a heterogenetic disorder, usually inherited as an autosomal recessive trait. So far, mutations in two human genes have been proved to cause the disease. However, the pathogenetics of most PCD cases remains unsolved. In this review, the disease pathomechanism is discussed along with the genes that are or may be involved in the pathogenesis of primary ciliary dyskinesia and the Kartagener syndrome.

Animals↗

PubMed1989

[Effectiveness of pharmacologic and non-pharmacologic methods of restoring bronchial patency].

Assessment is given of the effect of the medicamentous (administration of oral and inhalation of expectorant agents) and non-medicamentous (sauna) methods of treatment of disorders of mucociliary transport. The effect of the treatment was judged by its influence on the time of expectoration with sputum of blood containing agents after their inhalation. The most effective method for the restoration of bronchial drainage proved to be the use of expectorants administered by inhalation and less effective sauna. Therapeutic methods should be chosen with consideration of the degree of mucociliary insufficiency.

Bronchi↗

PubMed1992

[Structure, function and pathophysiology of mucociliary transport system].

There has been growing appreciation of the significant role played by the mucociliary transport system in the body. The mucociliary transport system is an important defense mechanism by which the human body usually maintains its "homeostasis" by protecting the body against invading particles, including bacteria. This system includes two major functional mechanisms; i.e., ciliary transport and mucous secretional systems, each of which is usually complimentary and cooperative. Three hereditary disorders, primary ciliary dyskinesia (immotile-cilia syndrome), cystic fibrosis and Young's syndrome, have been shown to be systemically associated with mucociliary transport failure, leading to male infertility and chronic sinopulmonary infections. Localized mucociliary transport failure, however, is observed in respiratory diseases, especially chronic sinusitis, chronic bronchitis, bronchiectasis and bronchial asthma. We aim, in this review, to draw together those developments in the study of ciliary transport and mucous secretion, the interactions between them and their pathophysiology that can provide a better understanding of the mucociliary transport system of the human body.

Cilia↗

PubMed1990

[Expectoration disorders in patients with chronic obstructive lung diseases].

The paper is concerned with an analysis of the original data and the conception regarding the pathogenesis of expectoration alterations and correction in patients with chronic obstructive pulmonary diseases (COPD). Expectoration defects in COPD are suggested to be classified according to duration of respiratory tract clearing from sputum. The disorders of the first and second degree amenable to correction by oral and inhalation expectorants are referred to compensation stage, those of the third degree resistant to the correction to decompensation stage. Efficiency of current expectorants is comparatively assessed as well as mechanisms of their actions. An approach to expectorants administration should be differential basing on the severity of relevant impairment and aimed at adequate maintenance or recovery of the sputum discharge in COPD patients.

Ciliary Motility Disorders↗

PubMed2005

[Neonatal diagnosis of primary ciliary dyskinesia: report of one case].

Primary ciliary dyskinesia is a rare, genetic disorder resulting of an abnormal ultrastructural morphology of cilia. Such disease is rarely recognized in neonatal period. We report on a newborn who exhibited unexplained respiratory distress. The diagnosis of primary ciliary dyskinesia was suggested by the association of bilateral and multiple atelectasis and situs inversus. Diagnosis was confirmed by three months of age by ultrastructural study of cilia. Primary ciliary dyskinesia is a rare disease. Diagnosis should be considered in unexplained cases of neonatal respiratory distress, especially when situs inversus totalis and multiple atelectasis are present. Diagnosis requires ciliary studies that can be performed in newborn infants.

Ciliary Motility Disorders↗

PubMed2001

Pathophysiology and treatment of airway mucociliary clearance. A moving tale.

Airway hygiene depends largely on mucociliary clearance (MCC) which in turn depends upon the movement of viscoelastic mucus along the airway by the beating of the ciliary appendages of airway epithelial cells. Failure to keep the airways sterile by MCC results in a host inflammatory response to the persistent microorganisms which, if it becomes chronic, causes damage to the airway wall and upregulation of mucus production manifest clinically as bronchiectasis, sinusitis and otitis. There are three principal disorders of MCC. Firstly, primary ciliary dyskinesia (PCD), a rare genetic deficiency of the ultrastructural apparatus required to propel the cilium, in which nasal nitric oxide is very low due to a deficiency of inducible nitric oxide synthase. Secondly, secondary ciliary dyskinesia due principally to microbial toxin-induced dysfunction of the energy pathways required for ciliary beating. Thirdly, abnormalities in the physicochemical properties of mucus, including reduced salt content/osmolality which results in it being unsuitable in quality for cilia to move it. Methods of rectifying this defect promise to restore MCC to normal and interfere in the vicious circle of inflammatory lung damage.

Bronchiectasis↗

PubMedDate not supplied

Diagnostic approach to primary ciliary dyskinesia: a review.

UNLABELLED: Primary ciliary dyskinesia (PCD) is a heterogeneous disease with impaired mucociliary transport leading to respiratory disorders, hearing impairment and male infertility. PCD can be diagnosed by clinical features together with functional and structural analysis of the cilia. To prevent bronchiectasis with a marked reduction in quality of life, early diagnosis is essential. The rarity of PCD and the costs of ultrastructural analysis of cilia require a rational diagnostic concept. We therefore reviewed the literature and compared clinical manifestations as well as functional and structural analyses of the cilia in 28 patients (23 children, 5 adults) investigated between 1990 and 1998. All were thoroughly examined for other possible diseases before biopsy, and ten patients (35.7%; eight children, two adults) were diagnosed as having PCD. From the literature review and our findings we conclude that ciliary investigation is indicated (a) in patients who remain suspected of having PCD despite thorough clinical examination and exclusion of other disorders such as cystic fibrosis, allergy, immunologic disorders and alpha1-antitrypsin deficiency; (b) in patients with situs inversus suffering from chronic and/or recurrent airway infections; and (c) in patients with neonatal respiratory distress syndrome of "unknown" cause (i.e. after exclusion of hyaline membrane disease, aspiration syndromes, neonatal pneumonia, and pneumothorax as well as cardiovascular and metabolic diseases). CONCLUSION: The combination of extensive clinical examination with functional and ultrastructural analysis of the cilia results in a high degree of accuracy in diagnosing PCD.

Adult↗

PubMed2006

The roles of cilia in developmental disorders and disease.

Cilia are highly conserved organelles that have diverse motility and sensory functions. Recent discoveries have revealed that cilia also have crucial roles in cell signaling pathways and in maintaining cellular homeostasis. As such, defects in cilia formation or function have profound effects on the development of body pattern and the physiology of multiple organ systems. By categorizing syndromes that are due to cilia dysfunction in humans and from studies in vertebrate model organisms, molecular pathways that intersect with cilia formation and function have come to light. Here, we summarize an emerging view that in order to understand some complex developmental pathways and disease etiologies, one must consider the molecular functions performed by cilia.

Animals↗

PubMed1992

Aplasia of respiratory tract cilia.

We report on ciliary aplasia of the respiratory tract, a rare disorder of the mucociliary apparatus, that is insufficiently recognized as a distinct entity. A culture method for ciliogenesis was developed by our laboratory and offers the advantage of studying cilia free of secondary changes associated with infection. Three cases of primary ciliary aplasia were documented histologically in direct biopsy specimens and also in biopsy specimens cultured specifically for ciliogenesis. Primary ciliary aplasia should be differentiated from secondary ciliary aplasia in which basal bodies are present and ciliogenesis takes place in specific culture. Only hereditary ciliary abnormalities are expressed in cell cultures. We critically review the cases of ciliary aplasia reported to date.

Bronchi↗

PubMed1985

The immotile cilia syndrome: radiological manifestations.

The immotile cilia syndrome (ICS) is an uncommon disorder characterized by specific and genetically determined defects of cilia that cause upper and lower respiratory disease. We reviewed the radiographic patterns in 30 patients who had ICS (15 females, 15 males) and ranged in age from newborn to 26 years. Except for two neonates, sinusitis and otitis were present in all patients. Chest radiographic abnormalities, universally present, included bronchial wall thickening, hyper-inflation, segmental atelectasis or consolidation, and segmental bronchiectasis. Situs inversus, present in 50% (7 females, 8 males), was not an essential part of this disorder. Radiologically, the disease progresses from bronchial wall thickening with or without hyperinflation, to increasing hyperinflation plus parenchymal changes including segmental atelectasis, consolidation, and bronchiectasis. There is also a predilection for anatomic middle lobe abnormalities. The radiological appearance and clinical state have similarities to cystic fibrosis, although they are less severe and less progressive. ICS should be considered in the differential diagnosis of slowly progressive chronic lung disease, sinusitis, and otitis.

Adolescent↗

PubMed2002

[Primary ciliary dyskinesia, presentation of an atypical case].

Primay ciliary dyskinesia is a rare autosomal recessive disorder, characterized by abnormal ciliary structure and function and chronic lung, sinus and middle ear disease. A 45-year-old man with a history of recurrent respiratory infections, which was developped in the adult age, and was presented with moderate clinical involvement, and spermatic hypomotility in seminogram. Diagnosis and differential diagnosis was based on the typical clinical picture and the electron microscopical demonstration of ultrastructural abnormalities. We found abnormal number of cilia on the bronchial mucosa cells and the ciliary structure was abnormal too. We observed abnormally short dynein arms and defective radial spokes.

Ciliary Motility Disorders↗

PubMed1984

Ultrastructural study of immotile cilia syndrome.

Recently immotile cilia syndrome has gained the interest of a number of investigators from the aspects of the physiology and pathology of the ciliary movement. This is because microstructural abnormalities of the dynein arms in the cilia of the respiratory mucosal epithelium and in the flagella of sperm tails have been identified in this syndrome. The present study was designed to find a simple clinical method for detecting patients having this syndrome, and was conducted to elucidate the clinical significance and etiology of this syndrome. In order to detect patients with immotile cilia syndrome, 72 patients with one of more conditions such as sinusitis, bronchiectasis, situs inversus and sterility were examined using a ciliary function test and electron microscope observation of the nasal cilia. Seven of the examined patients were diagnosed as having immotile cilia syndrome on the basis of the presence of the characteristic ultrastructural patterns of the nasal cilia, i.e., disorders of the dynein arms. The possibility of positive test results increases greatly as the degree of the complications increases, especially in the case of a combination of chronic inflammation of the respiratory tract with situs inversus and sterility. As the electron microscope findings of this syndrome, Afzelius (1979) has reported defects of the dynein arms, spoke head and central sheath. Beyond these microstructural abnormalities, I have identified abnormal attachment of the dynein arms as a new parameter in the electron microscopic diagnosis of immotile cilia syndrome.

Bronchiectasis↗

PubMed2000

CT-guided radiolabelled aerosol studies for assessing pulmonary impairment in children with bronchiectasis.

OBJECTIVE: To determine whether CT-guided mucociliary clearance studies allow differentiation between bronchiectasis associated with primary ciliary dyskinesia (PCD) and those unrelated to congenital or genetically transmitted defects. MATERIALS AND METHODS: Fifteen children aged 4-18 years with a CT diagnosis of bronchiectasis were included in the study. Six had PCD, while in nine cases no congenital disorder was demonstrated. RESULTS: CT showed bronchiectasis in 26 (29%) of 90 lung regions. Radiolabelled aerosol studies were conducted globally for each lung and on the regions affected by bronchiectasis. Global half-time of activity (t 1/2) values of patients with PCD were significantly higher (P < 0.001) than those with bronchiectasis unrelated to congenital disorders. Among the 26 lung regions in which CT demonstrated bronchiectasis, regional clearance was abnormal in 24 cases. Patients with PCD showed no statistically significant difference between regional and global t 1/2 values. Patients with bronchiectasis unrelated to congenital disorders showed significantly higher regional t 1/2 values in the affected regions with respect to the corresponding global pulmonary t 1/2 (P < 0.06). CONCLUSIONS: The combination of morphological CT information with functional data concerning the clearance of radiolabelled aerosol adds to our understanding of pulmonary impairment in children with bronchiectasis. In particular, regional studies allow the recognition of different mucociliary clearance patterns in bronchiectasis associated with PCD and those unrelated to congenital or genetically transmitted defects.

Adolescent↗

PubMed2005

Microtubule transport defects in neurological and ciliary disease.

Microtubules are primarily responsible for facilitating long-distance transport of both proteins and organelles. Given the critical role of this process in cellular function, it is not surprising that perturbation of microtubule-based transport can lead to diverse phenotypes in humans, including cancer and neurodegenerative disorders such as Alzheimer or Huntington disease. Recent investigations have also indicated that defects in specialized microtubule-based transport systems, such as mutations affecting the transport of protein particles along the length of cilia (intraflagellar transport) can cause retinal dystrophy, polycystic kidney disease or more complex syndromic phenotypes, such as Bardet-Biedl syndrome. In this review, we discuss recent findings implicating defects in microtubule-associated transport and motor proteins in a variety of diseases, particularly the role of defective microtubular transport in neurological and ciliary disease. These defects frequently display phenotypic consequences that manifest as human disease yet do not cause organismal lethality.

Biological Transport↗

PubMed2000

[Clinical features of primary ciliary dyskinesia].

Primary ciliary dyskinesia is a recessively inherited group of disorders with abnormal ciliary activity leading to disturbed mucociliary clearance. Clinical manifestations as early as the first year of life are recurrent rhinitis, otitis media, sinusitis and lower respiratory tract infections. Another typical presentation is situs inversus. Biopsy of the ciliated mucosa in the nose or bronchi is required for study by vital microscopy and electronmicroscopy to confirm the diagnosis. Early diagnosis is important for initiation of rigorous treatment involving physiotherapy, inhalation with beta 2-mimetics and prompt antibiotic treatment to prevent irreversible damage such as bronchiectasis. Compared with cystic fibrosis the prognosis is better, because older children can compensate the absent mucociliary clearance with always-functioning cough clearance.

Biopsy↗

PubMed1998

[Current methods for assessing mucociliary transport disorders in the diagnosis of chronic rhinosinusitis].

Mucociliary transport of nasal and paranasal sinus mucosa was assessed in 30 healthy subjects and 40 patients with chronic purulent rhinosinusitis. Clinical, biophysical, mathematical, histological and electron microscopic methods were employed. Biophysical investigation comprised life-time TV microscopy of the specimens. Mucociliary transport investigation and sparing sampling of the ciliary epithelium from mucosa surface of the nose and paranasal sinuses were performed by means of a special apparatus. The computer program modelled vibration of the cilia and estimated their movements (total waving frequency, duration of the impact and raising phases, their correlation). The study discovered prominent structural and functional impairment of the mucociliary system manifesting as ciliary dyskinesia and epithelium converting into the stratified squamous one.

Adult↗

PubMed2006

The ciliopathies: an emerging class of human genetic disorders.

Cilia and flagella are ancient, evolutionarily conserved organelles that project from cell surfaces to perform diverse biological roles, including whole-cell locomotion; movement of fluid; chemo-, mechano-, and photosensation; and sexual reproduction. Consistent with their stringent evolutionary conservation, defects in cilia are associated with a range of human diseases, such as primary ciliary dyskinesia, hydrocephalus, polycystic liver and kidney disease, and some forms of retinal degeneration. Recent evidence indicates that ciliary defects can lead to a broader set of developmental and adult phenotypes, with mutations in ciliary proteins now associated with nephronophthisis, Bardet-Biedl syndrome, Alstrom syndrome, and Meckel-Gruber syndrome. The molecular data linking seemingly unrelated clinical entities are beginning to highlight a common theme, where defects in ciliary structure and function can lead to a predictable phenotypic pattern that has potentially predictive and therapeutic value.

Ciliary Motility Disorders↗

PubMed1985

[Pharmacology of mucociliary transport].

Muco-ciliary transport is only effective because of the coordination of the ciliary beats (metachronous) and the harmony between mucus and cilia. The tip of the cilia is in contact with a jellyform layer of mucus propelled to the oropharynx. This jellyform layer has a complex rheological behaviour: it flows like a liquid and shapes like solid elastic. When the rheological properties of bronchial secretion are abnormal, mucociliary transport becomes inefficient. However, the most fluid secretions are not necessarily best transported, because the elasticity and viscosity to guarantee efficient muco-ciliary transport can only vary within defined limits. The mechanism regulating the ciliary beats is poorly understood; the bronchial secretions conduct impulses through the autonomic nervous system as well as mediators such as histamine and the metabolites of arachidonic acid. Mucociliary function may be studied either, directly through mucociliary transport or through mucociliary clearance. A fall in mucociliary activity can be produced by a primary ciliary disorder, by bronchial disease or the consequences of respiratory infection. General anaesthetics and Atropine slow mucociliary transport but Ipratropium bromide does not; Theophylline and sympathomimetics speed it up. The expectorants are mucolytics (proteolytic enzymes, N-acetyl-cysteine), there are agents to correct hydration anomalies of the bronchial secretion (water, hypertonic sodium chloride) iodides, antifibrins by substitution, anti-inflammatory agents and mucoregulatory agents (S-carboxymethylcysteine, bromhexine). The efficacy of the greater part of these expectorants has not been established in vivo by controlled therapeutic trials.

Anesthetics↗