We present 17 patients with a typical symptomatology of immotile cilia syndrome, seven of them with complete situs inversus. Firstly, a study of the nasal mucociliary transport was made by means of the radioisotopic technique with serum albumin-Tc99m. In all cases there was absence of transport. Secondly, we studied the ultrastructure of the nasal cilia. Defects in the dynein arms were frequently found (65%). In two cases (11%) there were no cilia; in two other cases the cilia were normal, and in another two cases alterations of the central pair of microtubules were seen. Ciliary complexes were detected in all cases. We conclude that in patients with chronic or recurrent infections of the airways without known cause we must initiate a study of the nasal mucociliary transport. If this is absent or decreased, study of ciliary ultrastructure should be carried out. If mucociliary transport is normal, immotile cilia syndrome is ruled out and ultrastructural study of the cilia is not required.
Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
Primary ciliary dyskinesia as a rare cause of male infertility: case report and literature overview.
Basic Clin Androl
December 2024
RECETOX, Faculty of Science, Masaryk University, Brno, Czech Republic.
Background: Primary ciliary dyskinesia (PCD) is a heterogenous disease caused by mutations of miscellaneous genes which physiologically play an important role in proper structure and/or function of various cellular cilia including sperm flagella. Besides male infertility, the typical phenotypes, based on decreased mucociliary clearance, are lifelong respiratory issues, i.e.
View Article and Find Full Text PDFMotile Cilia in Female and Male Reproductive Tracts and Fertility.
Cells
November 2024
Laboratory of Cytoskeleton and Cilia Biology, Nencki Institute of Experimental Biology of Polish Academy of Sciences, 3 Pasteur Street, 02-093 Warsaw, Poland.
Motile cilia are evolutionarily conserved organelles. In humans, multiciliated cells (MCCs), assembling several hundred motile cilia on their apical surface, are components of the monolayer epithelia lining lower and upper airways, brain ventricles, and parts of the reproductive tracts, the fallopian tube and uterus in females, and efferent ductules in males. The coordinated beating of cilia generates a force that enables a shift of the tubular fluid, particles, or cells along the surface of the ciliated epithelia.
View Article and Find Full Text PDFPrimary ciliary dyskinesia and male infertility: Unraveling the genetic and clinical nexus.
Andrology
November 2024
Thoracic Research Center, Imam Khomeini Hospital Complex, Tehran University of Medical Sciences, Tehran, Iran.
Primary ciliary dyskinesia (PCD) is a rare autosomal recessive disorder characterized by dysfunction of motile cilia in various organ systems, including the respiratory and reproductive tracts. A key manifestation in males is infertility, primarily attributed to impaired sperm motility. Although sperm vitality may be preserved, immotility or abnormal flagellar function significantly impairs natural conception.
View Article and Find Full Text PDFA novel homozygous mutation of CFAP300 identified in a Chinese patient with primary ciliary dyskinesia and infertility.
Asian J Androl
January 2025
Center of Reproductive Medicine, Jinling Hospital, Affiliated Hospital of Medical School, Nanjing University, Nanjing 210008, China.
Primary ciliary dyskinesia (PCD) is a clinically rare, genetically and phenotypically heterogeneous condition characterized by chronic respiratory tract infections, male infertility, tympanitis, and laterality abnormalities. PCD is typically resulted from variants in genes encoding assembly or structural proteins that are indispensable for the movement of motile cilia. Here, we identified a novel nonsense mutation, c.
View Article and Find Full Text PDFA range of 30-62% of functioning multiciliated airway cells is sufficient to maintain ciliary airway clearance.
Eur Respir J
October 2024
Department of General Pediatrics, University Children's Hospital Muenster, Muenster, Germany
Background: Primary ciliary dyskinesia is a genetic disorder caused by aberrant motile cilia function that results in defective ciliary airway clearance and subsequently leads to recurrent airway infections and bronchiectasis. We aimed to determine: how many functional multiciliated airway cells are sufficient to maintain ciliary airway clearance?
Methods: To answer this question we exploited the molecular defects of the X-linked recessive primary ciliary dyskinesia variant caused by pathogenic variants in (), characterised by immotile cilia in affected males. We carefully analysed the clinical phenotype and molecular defect (using immunofluorescence and transmission electron microscopy) and performed studies (particle tracking in air-liquid interface cultures) and studies (radiolabelled tracer studies) to assess ciliary clearance of respiratory cells from female individuals with heterozygous and male individuals with hemizygous pathogenic variants.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!