Ultrastructural Patterns of Primary Ciliar Dyskinesia Syndrome (original) (raw)
Related papers
A rare case of primary ciliary dyskinesia with Kartagener's syndrome -A case report
International Archives of Integrated Medicine,, 2023
Primary ciliary dyskinesia (PCD) is an autosomal recessive hereditary disease that includes various forms of ciliary ultrastructural defects. The most serious form is Kartagener syndrome (KS), which accounts for 50% of all cases of PCD. Kartagener"s syndrome is a rare disorder and the prevalence is about 1 in 30,000. It is autosomal recessive ciliary disorder comprising the triad of situs inversus totalis, chronic sinusitis, and bronchiectasis. The defective movement of cilia leads to recurrent respiratory infections, and ear/ nose/ throat infections, and infertility. The diagnosis is made clinically and confirmed through electron microscopy, which reveals abnormalities of structural organization of the axoneme in cilia from respiratory epithelia and in spermatozoa. Underlying structural defects include 1) absent inner and/or outer dynein arms, 2) tubular defects, and 3) radial spoke defects. We hereby report a rare case of Kartagener"s syndrome, in an infertile male with immotile sperms. The clinician should have a high index of suspicion, so as to make an early diagnosis. An early diagnosis helps in making the options for timely treatment of infertility may be offered and unnecessary evaluation is avoided.
Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome
Genetics in Medicine, 2009
Primary ciliary dyskinesia is a genetically heterogeneous disorder of motile cilia. Most of the disease-causing mutations identified to date involve the heavy (dynein axonemal heavy chain 5) or intermediate (dynein axonemal intermediate chain 1) chain dynein genes in ciliary outer dynein arms, although a few mutations have been noted in other genes. Clinical molecular genetic testing for primary ciliary dyskinesia is available for the most common mutations. The respiratory manifestations of primary ciliary dyskinesia (chronic bronchitis leading to bronchiectasis, chronic rhino-sinusitis, and chronic otitis media) reflect impaired mucociliary clearance owing to defective axonemal structure. Ciliary ultrastructural analysis in most patients (Ͼ80%) reveals defective dynein arms, although defects in other axonemal components have also been observed. Approximately 50% of patients with primary ciliary dyskinesia have laterality defects (including situs inversus totalis and, less commonly, heterotaxy, and congenital heart disease), reflecting dysfunction of embryological nodal cilia. Male infertility is common and reflects defects in sperm tail axonemes. Most patients with primary ciliary dyskinesia have a history of neonatal respiratory distress, suggesting that motile cilia play a role in fluid clearance during the transition from a fetal to neonatal lung. Ciliopathies involving sensory cilia, including autosomal dominant or recessive polycystic kidney disease, Bardet-Biedl syndrome, and Alstrom syndrome, may have chronic respiratory symptoms and even bronchiectasis suggesting clinical overlap with primary ciliary dyskinesia. Genet Med 2009:11(7):473-487.
Unusual inheritance of primary ciliary dyskinesia (Kartagener's syndrome)
Journal of Medical Genetics, 1994
Primary ciliary dyskinesia syndrome is characterised by chronic sinusitis, bronchiectasis, and, in 50% of cases, dextrocardia. It is generally believed to be inherited as an autosomal recessive disorder. In this report, we describe a family consisting of a mother and her five male children, the offspring of three different fathers, all of whom have this syndrome. This argues for either an X linked or autosomal dominant pattern of inheritance. Cytogenetic and FISH (fluorescent in situ hybridisation) analyses were done on the mother and one son and were found to be normal.
Quantitative analysis of ciliary ultrastructure in patients with primary ciliary dyskinesia
Acta Histochemica, 2008
The present study was designed to investigate dynein arm and microtubule defects quantitatively in patients with respiratory disease and to establish the clinical relevance of dynein arm deficiency and microtubule abnormalities. Thirty-four patients with recurrent upper and/or lower respiratory infections were included in the study. Nasal mucosal brushings were fixed in glutaraldehyde and routine electron microscopic procedures were carried out. At least 20 cross-sectioned cilia were examined from each subject. Dynein arm and microtubular abnormalities were quantified and a statistical analysis was performed. Twenty-nine percent of the patients showed dynein arm deficiency and a further 21% had possible deficiency (PD). Microtubule defects in patients with dynein arm deficiency and PD were found to be significantly increased compared to the patients with no dynein arm deficiency. The most prominent defect in the dynein arm deficiency group was a translocation of central and/or peripheral microtubules. The high percentage of translocation defect in this group of patients suggests that these defects are primary, rather than secondary to infection.
New developments in the diagnosis of Kartagener’s syndrome☆☆☆
Otolaryngology - Head and Neck Surgery, 1997
Kartagener's syndrome is characterized by the clinical triad of bronchitis, sinusitis, and situs inversus. An inherited ultrastructural defect results in ciliary immotility with impaired mucociliary clearance throughout the pulmonary and sinonasal passages. Until recently, the diagnosis of Kartagener's syndrome was made on the basis of a qualitative decrease in the number of dynein arms and subjective abnormalities in other ciliary components on electron microscopy. New investigations, however, have defined objective methods of diagnosis on the basis of quantitative ciliary measurements. The use of these methods in a series of 17 cases of suspected ciliary immotility resulted in a reversal of diagnosis in 6 cases (35%) that previously were considered normal. These results suggest that the prevalence of inherited ciliary dyskinesias is much greater than currently is recognized. The early identification and treatment of individuals with these disorders could lead to a reduction in irreversible sinus and pulmonary pathologic conditions with improved long-term survival.
Nasal Scraping in Diagnosing Ciliary Dyskinesia
American Journal of Rhinology, 2007
BackgroundPrimary ciliary dyskinesia (PCD) is a congenital, clinically and ultrastructurally heterogeneous disease caused by abnormal structure and/or function of cilia. Kartagener's syndrome is one subgroup of PCD. Acquired ciliary dyskinesia is frequent, generally being associated with or following respiratory tract infections.MethodsFrom January 2003 to April 2006, nasal mucociliary transport time was measured in 64 patients and specimens obtained by nasal scraping were examined by transmission electron microscope (TEM).ResultsThe 64 nasal scrapings led to the diagnosis of 11 (17.2%) cases of PCD and 51 (79.7%) cases of secondary ciliary disorder. In two cases (3.1%) no clear diagnosis was possible.ConclusionNasal scraping is an easy, cheap, and efficient tool for detecting ciliary abnormalities by TEM and for distinguishing acquired and congenital modifications.
American Journal of Respiratory and Critical Care Medicine, 2004
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 ϭ 78; 100%), recurrent otitis media (n ϭ 74; 95%), neonatal respiratory symptoms (n ϭ 57; 73%), and situs inversus (n ϭ 43; 55%) are strong phenotypic markers of the disease. Mucoid Pseudomonas aeruginosa (n ϭ 12; 15%) and nontuberculous mycobacteria (n ϭ 8; 10%) were present in older (Ͼ 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 Ϯ 17 vs. 376 Ϯ 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.
2021
Background: Primary ciliary dyskinesia (PCD) is a rare autosomal recessive condition of often chronic respiratory infections in early life. A useful tool for early diagnosis of such ciliary abnormalities is transmission electron microscopy (TEM). This study aimed to use TEM to examine these defects and speculate on a diagnosis.Methods: From 2017 to 2019, all referral patients with suspected PCD symptoms were included in this study. Nasal samples were taken after exclusion of further potential differential diagnosis and prepared for TEM. The final diagnosis was based on the International Consensus Guideline for reporting transmission electron microscopy results in the diagnosis of PCD. A descriptive analysis of demographic and ciliary ultrastructural data was performed by SPSS ver 21.Results: Study population consisted of 37 women and 30 men (mean age=20.34±10.7 years). The clinical presentations were as follows: bronchiectasis: 26 patients (38.8%); sinusitis: 23(34.3%); recurrent re...