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PubMed2000

[Primary ciliary dyskinesia. A new phenotypic variant].

Primary ciliary dyskinesia (PCD) is a genetic disorder characterized by the inability of ciliated structures to beat effectively. Clinical course includes recurrent sinus and ear infections, chronic or recurrent bronchitis and infertility in men. Although several phenotypes have been described, lung function deterioration secondary to bronchiectasis becomes severe only rarely. That upper airway tract infections go unnoticed has not been reported. We report a case of PCD characterized by immotile sperm, severe obstructive respiratory disorder that required a sequential double lung transplant with the absence of recurrent sinus and ear infections.

Adult↗
PubMed2026

A Novel Homozygous Mutation in ARL2BP Causes Multiple Morphological Abnormalities of the Flagella and Primary Ciliary Dyskinesia.

Primary ciliary dyskinesia (PCD) and multiple morphological abnormalities of the sperm flagella (MMAF) frequently co-occur in male infertility. However, the genetic basis of this syndromic presentation remains unclear. Using whole-exome sequencing, we identified a novel homozygous ARL2BP splice-site mutation (c.294-2A>G) in a 23-year-old infertile male from a consanguineous family who presented with syndromic PCD and MMAF. This variant causes aberrant pre-mRNA splicing and triggers nonsense-mediated mRNA decay, resulting in the complete absence of ARL2BP protein expression. Transmission electron microscopy revealed extensive disorganization of flagellar axonemes with consistent central pair (CP) microtubule depletion and disorganization of peripheral doublets. Immunofluorescence confirmed a severe deficiency of the CP protein SPAG6 in the sperm flagella. Notably, the patient presented without retinal symptoms. Given that ARL2BP-related retinitis pigmentosa generally emerges during the third decade, long-term ophthalmological follow-up is essential to detect delayed-onset retinal degeneration. In conclusion, these findings confirm ARL2BP as a causative gene for both PCD and MMAF, expanding the genotypic and phenotypic spectrum of ciliopathies.

Humans↗
PubMed1988

Primary mucociliary transport failure.

Among the disorders associated with male infertility and chronic sinopulmonary infections, primary ciliary dyskinesia or cystic fibrosis is characterized by ciliary dysfunction or abnormality of mucus secretion. In addition, Young's syndrome differs from the former because of the absence of ultrastructural cilia disorders and from the latter because of normal sweat and pancreatic functions. However, a number of manifestations seen in these disorders appear to overlap each other, e.g., male infertility and chronic sinopulmonary infections which often develop bronchiectasis. Therefore, I would like to propose that the term 'muco(secretion)ciliary transport failure' is used for illnesses in patients with primary impairment of mucosecretion and/or ciliary transport in organs containing the mucociliary transport system. Primary mucociliary transport failure encompasses three hereditary disorders, that is, primary ciliary dyskinesia, cystic fibrosis and Young's syndrome. Ciliary activity is closely associated with mucus production. For a better understanding of the relationship between ciliary activity and mucus production, further basic and clinical studies should be attempted.

Animals↗
PubMed2000

Secondary ciliary dyskinesia in upper respiratory tract.

The system of mucociliary clearance has the important task to remove from the airways inhaled substances and locally formed secretions. Inborn disorders of the mucociliary transport are due to ciliary dysfunction (Primary Ciliary Dyskinesia) (PCD) or of increased viscosity of the bronchial secretions (Cystic Fibrosis). To differentiate PCD from the ultrastructural abnormalities found during or after injuries such as respiratory infections, the name of Secondary--or acquired--Ciliary Dyskinesia (SCD) was created. In controls, less than 4% of the cilia may show ultrastructural abnormalities. The most frequent of these are the compound cilia and the peripheral microtubular abnormalities. Compound cilia often appear after infection and therefore are thought to arise secondarily. Secondary ultrastructural abnormalities of cilia include also blebs of the axoneme membrane, ciliary disorientation, and absence of axoneme membrane. No increase in ultrastructural ciliary abnormalities has been found in a variety of respiratory disorders: smoking, asthma and allergic rhinitis, chronic rhinitis and sinusitis, chronic bronchitis, cystic fibrosis, and lung carcinoma. But severe modifications of the respiratory epithelium can be seen. Important for the secondary ciliary disorders is their local and reversible character. To distinct from ultrastructural images between primary and secondary ciliary dyskinesia is often uneasy because some of the findings in secondary ciliary dyskinesia obviously mimic those dedicated to primary ciliary dyskinesia.

Bacterial Infections↗
PubMed1989

[Primary ciliary dyskinesia; a questionnaire study of the clinical aspects].

With the aid of a questionnaire form we have gathered information about the clinical picture of patients suffering from primary ciliary dyskinesia. The study group numbered 34 persons, whose diagnosis was confirmed by electron microscopy. Chronic cough and common cold symptoms are present from shortly after birth. Twenty-three respondents reported respiratory tract problems in the neonatal period. The dysfunctional cilia result in chronic respiratory tract infections (chronic bronchitis; bronchiectasis; pneumonia; chronic sinusitis, rhinitis or otitis media). These lead to the following complaints: frequent blowing of the nose (in 32 pat.; 94%), chronic productive cough (in 28 pat.; 82%), chronic common cold (in 26 pat.; 77%), hearing problems (in 24 pat.; 71%), shortness of breath (in 23 pat.; 68%), frequent headache (in 13 pat.; 38%) and sore throat (in 9 pat.; 27%). In order to prevent the invalidating consequences of this disorder appropriate steps should be taken as soon as possible. These should include physiotherapy and adequate antibiotic therapy.

Adolescent↗
PubMed1983

[Ciliary disorders of the bronchi in children].

The present study relates to 39 children, 24 boys and 15 girls, aged 1 to 17 (mean age, 6 1/2 years) suffering from chronic airflow obstruction without muco-viscidosis. The search for a ciliary anomaly was motivated either by the coexistence of situs inversus (group I: 12 cases) or by the negative or scanty aetiological history (group II: 27 cases). The investigation of the cilia consists of a study of ciliary motility and an ultrastructural study of biopsy specimens using the electron microscope. Groups I and II were similar as regards severity of disease, assessed by the incidence of bronchiectasis and chronic hypoxia at rest; a higher incidence of neonatal respiratory distress was noted in group I (7 cases against 4 in group II). Ciliary immotility was particularly noted in group I (7 cases) and one case of weak motility in group II. The major ultrastructural anomalies of the axonemal complex were seen as well in both groups I and II; it was noted that all the structures may be totally or partially missing with the exception of the peripheral microtubules. The discussion centred on three points: 1. In the first analysis, the discordance between the existance of major ultrastructural anomalies of the axonemal complex, a priori incompatible with the conservation of ciliary motility on light microscopy; the link seems to lie in the percentage of cilia affected, the existence of ciliary dyskinesia and finally the disorientation of the basal corpuscles. 2. The immunologic abnormalities sometimes associated with a syndrome of ciliary immotility: that is the anomalies of leucokyte migration under the control of microtubular structures in the peri-centriolar region. 3. The practical consequences. Current treatment rests on daily respiratory physiotherapy and antibiotics adapted for cases of superinfection; also there are drugs stimulating ciliary activity perhaps by the effect on their residual motility; some substances carrying ATP and ATP-ase may re-establish ciliary motility anulled by the absence of dynein arms; also the observations of major ultrastructural abnormalities ought to lead to better genetic counselling than at present, where the mode or modes of transmission are uncertain.

Adolescent↗
PubMed2006

Novel tools to unravel molecular mechanisms in cilia-related disorders.

Cilia are hair-like organelles extending from the cell surface that execute motile (e.g. respiratory cilia) and/or sensory functions (e.g. renal monocilia). The basic ultrastructure of cilia and flagella has been well established by electron microscopy. Several recent reports have now provided intriguing new insights into the complex molecular composition of cilia and flagella. These data from genome, proteome and transcriptome analyses will facilitate the systematic discovery and understanding of genes responsible for human cilia-related diseases, such as primary ciliary dyskinesia, polycystic kidney disease and male sterility.

Animals↗
PubMed1985

Recurrent bacterial pneumonia: a contemporary perspective.

Numerous clinical disorders predispose to "recurrent bacterial pneumonia." Identification and treatment of some of these predisposing conditions will reduce associated morbidity, mortality, and health care expenditures. In young adults these disorders include cystic fibrosis, the immotile-cilia syndrome, Young's syndrome, pulmonary sequestration, and bronchiectasis. Disorders enhancing recurrent bacterial pneumonia in older adults include chronic obstructive lung disease, bronchial obstruction, specific malignancies, hypogammaglobulinemia, alcoholism, neurologic diseases, and esophageal abnormalities.

Adolescent↗
PubMed1995

Primary ciliary dyskinesia: a cause of neonatal respiratory distress.

Primary ciliary dyskinesia (PCD) is a rare disorder associated with chronic respiratory problems and even more infrequently as a cause of neonatal respiratory distress. Of consecutive 12 children seen with a diagnosis of PCD, the disorder presented within the neonatal period in 11, with a positive family history in 50%. The diagnosis was delayed in several cases, despite suggestive radiological findings. The data highlights the importance of recognizing PCD in newborns presenting with early respiratory distress and isolated dextrocardia.

Ciliary Motility Disorders↗
PubMedDate not supplied

Mucociliary dysfunction in experimental otitis media with effusion.

To investigate the morphologic changes of the eustachian tube mucociliary transport systems, experimental otitis media with effusion was induced by immune complex injection into the bullae of experimental animals. Horseradish peroxidase was chosen as an antigen because of its high antigenicity and traceability under light and electron microscopy. Seventy-three guinea pigs and 41 chinchillas were divided into three groups: active Arthus group, passive Arthus group, and control group. Animals were killed under general anesthesia from the first to 30th day after the injection. Within 5 days after injection, effusions were observed consistently in all animals, but in only 80 per cent on the 7th day and in only 50 per cent after the 10th day after injection. The most conspicuous findings were that the interciliary space of the mucociliary system was diffusely occupied by an electron-dense mucus, and the upper part of the ciliary shafts were tightly glued together. These features seem to indicate rheologic alterations of the mucus and a disorder of its coupling to the cilia. This study strongly suggests that the mucociliary coupling disorder caused by altered rheologic properties of the mucus causes clearance dysfunction of the eustachian tube, resulting in middle ear effusion. The various inflammatory products contained in the middle ear effusions elicit a persistent vicious cycle of inflammatory reactions in the tubotympanum.

Animals↗
PubMed1991

Inherited factors in diffuse bronchiectasis in the adult: a prospective study.

To evaluate the prevalence of inherited respiratory ciliary structure and underlying mucus abnormalities in the diffuse bronchiectasis syndrome, we investigated 53 subjects comprising 38 patients with diffuse bronchiectasis confirmed by high-resolution thoracic computed tomography, ten with chronic bronchitis and no diffuse bronchiectasis and five healthy nonsmoking control subjects. The clinical history was determined by means of a standardized questionnaire. Axonemal abnormalities of respiratory cilia were evaluated on bronchial or nasal mucosa samples by transmission electron microscopy (structure) and stroboscopic observation (function). Cystic fibrosis (CF) and Young's syndrome were detected by means of the sweat test and semen analysis when male infertility was suspected. Among the 38 patients with diffuse bronchiectasis, a primary ciliary dyskinesia (PCD) was detected in five (13%) with a high proportion (range: 55-100%) of cilia showing axonemal ultrastructural abnormalities always involving the dynein arms. The prevalence of this inherited condition was higher in North African (36%) than in European patients (4%) (p less than 0.01). After exclusion of the five patients with PCD, the patients with diffuse bronchiectasis showed axonemal ultrastructural abnormalities similar to those with chronic bronchitis. The diagnosis of underlying mucus disorders was based on two types of criterion, i.e. for CF, sweat chloride levels greater than 80 mmol.l-1, or the combination of diagnostic criteria proposed by Stern et al. Respectively, five (three Young's syndrome and two CF) and seven (one Young's syndrome and six CF) cases of inherited mucus disorders were suspected. Our results showed that PCD was highly prevalent among the adult North African patients with diffuse bronchiectasis but relatively rare in the Europeans.

Adult↗
PubMed1984

Immotile cilia syndrome associated with polycystic kidney.

The immotile cilia syndrome is an inherited disorder characterized by the inability of ciliated structures to beat effectively. The urological manifestation of this syndrome is sterility. We report a case of the immotile cilia syndrome associated with polycystic kidney, which also is a hereditary disease.

Adult↗
PubMed1986

Neonatal diagnosis of the immotile cilia syndrome.

The immotile cilia syndrome is an inherited disorder characterized by inappropriate motility of the cilia. The clinical symptoms include recurrent sinopulmonary infections and reduced fertility. In about half of the cases, situs inversus is encountered. The case presented is of a two-day-old boy in whom diagnosis was based on ultrastructural abnormalities. Early diagnosis permitted immediate symptomatic treatment and an absence of infections during a 37-month period of observation. Nasal biopsies performed in six newborns with various degrees of respiratory distress secondary to classic neonatal respiratory problems and in a healthy one-day-old newborn demonstrated the presence of normal ciliary structures at birth. In cases without situs inversus, diagnosis of the immotile cilia syndrome may be difficult. The importance of early diagnosis and management is stressed; the ultrastructural abnormalities are present at birth in newborns with the immotile cilia syndrome.

Biopsy↗
PubMed1990

[The concept of "organellopathies"--component of modern cellular pathology].

Review is made to an account of contemporary knowledge on cell organelles in an attempt to describe organellopathies known at present together with their relations with diseases and syndromes. Organellopathy is defined as a disease, with its primary effect and/or primary morphological and functional alterations being located in the organelle population of one or several cell types. Mitochondriopathies (mitochondrial disorders), lysosomopathies (lysosomal disease), peroxisomopathies (peroxisomal disorders), ciliopathies (ciliary diseases), and plasma membranopathies (brush border membrane diseases) have so far been most comprehensively characterised and are associated with distinctive clinical pictures. However, unambiguously characterised pathies are almost completely absent with regard to other organelles. With numerous ideas still being of speculative nature, the concept of organellopathies as such may be considered as an element of modern cellular pathology.

Cell Membrane↗
PubMed1991

Primary ciliary dyskinesia.

Primary ciliary dyskinesia represents a group of heritable disorders of cilia and sperm affecting between 1 in 15,000 and 1 in 30,000 persons. Those affected lack measurable mucociliary clearance and suffer the constant misery of rhinorrhea and chronic productive cough. Because mucociliary clearance constitutes one of the respiratory system's major lines of defense, these patients are vulnerable to chronic sinusitis, bronchitis, pneumonia, and otitis media. Left untreated, these problems may progress to bronchiectasis, found frequently in adult patients, or pulmonary hypertension with eventual cor pulmonale. Screening for this disorder includes some simple and inexpensive methods as well as more exotic techniques requiring special camera equipment and an electron microscope to make a definitive diagnosis. Physiotherapy techniques can be taught to patients with primary ciliary dyskinesia and go a long way toward making up for the lack of mucociliary clearance. Vigorous bronchopulmonary toilet and palliative measures may enable these patients to enjoy relatively normal lives.

Ciliary Motility Disorders↗
PubMed1997

Ciliary dyskinesia in the nose and paranasal sinuses.

Primary ciliary dyskinesia is a rare autosomal recessive disorder of which 50% with situs inversus Kartagener's syndrome. Secondary ciliary dyskinesia is a frequent observation, mostly in association with or after respiratory tract infections. Diagnosis and differential diagnosis are mostly based on the typical clinical picture, the absence of mucociliary clearance and ciliary activity and the electron microscopical demonstration of ultrastructural abnormalities. However, these investigations are not always conclusive. Functional and ultrastructural ciliary evaluation after ciliogenesis in tissue culture is essential and crucial.

Cilia↗
PubMed2000

Function and ultrastructure of cilia in primary ciliary dyskinesia.

Primary ciliary dyskinesia (PCD) is a heterogeneous disease with impaired mucociliary transport leading to upper and lower respiratory disorders, hearing impairment and male infertility. Primary ciliary dyskinesia can only be diagnosed by clinical features together with functional and structural analysis of the cilia. To prevent bronchiectasis with marked reduced quality of life, early diagnosis is essential. For this purpose we compared our experience over 10 years with the literature. Our concept consists of a thorough interdisciplinary examination of the patient to rule out other underlying pathologies such as allergy, cystic fibrosis, immune deficiencies, and alpha-1-antitrypsin deficiency on the basis of their clinical features. Thereafter, mucosal biopsies from 27 patients were investigated. In 10 patients (37%) primary ciliary dyskinesia was diagnosed with the help of functional and ultrastructural analysis. 9 patients displayed no or impaired ciliary motility and a high percentage showed ultrastructural defects such as dynein arm deficiency, radial spoke defects and translocation of peripheral microtubular doublets with absent central microtubules. We suggest that investigation of mucosal biopsies for primary ciliary dyskinesia diagnosis without clinical preselection is indicated in patients with "situs inversus" suffering from chronic and/or recurrent airway infections, in patients with neonatal respiratory distress syndrome of "unknown" cause (i.e. after ruling out the other well known causes) with "situs inversus".

Adult↗