Primary ciliary dyskinesia (PCD), also known as immotile Immotile Shigella-cilia syndrome, is an autosomal recessive Autosomal recessive Autosomal inheritance, both dominant and recessive, refers to the transmission of genes from the 22 autosomal chromosomes. Autosomal recessive diseases are only expressed when 2 copies of the recessive allele are inherited. Autosomal Recessive and Autosomal Dominant Inheritance disorder leading to an impairment that affects mucociliary clearance Mucociliary clearance A nonspecific host defense mechanism that removes mucus and other material from the lungs by ciliary and secretory activity of the tracheobronchial submucosal glands. It is measured in vivo as mucus transfer, ciliary beat frequency, and clearance of radioactive tracers. Acute Bronchitis. Primary ciliary dyskinesia is caused by defective ciliary function in the airways and is characterized by the loss of oscillation (immotility), abnormal oscillation (dyskinesia), or absence of cilia ( aplasia Aplasia Cranial Nerve Palsies). In most cases, PCD commonly presents with recurrent infections Recurrent infections Common Variable Immunodeficiency (CVID) of the upper and lower respiratory tract. Clinical features include bronchiectasis Bronchiectasis Bronchiectasis is a chronic disease of the airways that results from permanent bronchial distortion. This results from a continuous cycle of inflammation, bronchial damage and dilation, impaired clearance of secretions, and recurrent infections. Bronchiectasis, chronic rhinosinusitis, and situs inversus. There is no gold standard diagnostic test for PCD, as several tests are used in the diagnosis. Treatment is individualized, and the primary goal is to remove trapped mucus and treat infections Infections Invasion of the host organism by microorganisms or their toxins or by parasites that can cause pathological conditions or diseases. Chronic Granulomatous Disease. Patients Patients Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. Clinician–Patient Relationship with PCD usually have a regular Regular Insulin lifespan.
Last updated: 6 Apr, 2021
Primary ciliary dyskinesia (PCD) is a genetic condition in which cilia in the respiratory tract have defective functionality that leads to ineffective mucociliary clearance Mucociliary clearance A nonspecific host defense mechanism that removes mucus and other material from the lungs by ciliary and secretory activity of the tracheobronchial submucosal glands. It is measured in vivo as mucus transfer, ciliary beat frequency, and clearance of radioactive tracers. Acute Bronchitis.
A histological slide of the respiratory mucosa composed of ciliated pseudostratified columnar
epithelium
Epithelium
The epithelium is a complex of specialized cellular organizations arranged into sheets and lining cavities and covering the surfaces of the body. The cells exhibit polarity, having an apical and a basal pole. Structures important for the epithelial integrity and function involve the basement membrane, the semipermeable sheet on which the cells rest, and interdigitations, as well as cellular junctions.
Surface Epithelium: Histology, which covers the
lamina propria
Lamina propria
Whipple’s Disease of the nasal conchae:
The mucus produced by this
epithelium
Epithelium
The epithelium is a complex of specialized cellular organizations arranged into sheets and lining cavities and covering the surfaces of the body. The cells exhibit polarity, having an apical and a basal pole. Structures important for the epithelial integrity and function involve the basement membrane, the semipermeable sheet on which the cells rest, and interdigitations, as well as cellular junctions.
Surface Epithelium: Histology serves as a filter by trapping airborne particles larger than 2–3 micrometers.
Illustration of a ciliated epithelium Epithelium The epithelium is a complex of specialized cellular organizations arranged into sheets and lining cavities and covering the surfaces of the body. The cells exhibit polarity, having an apical and a basal pole. Structures important for the epithelial integrity and function involve the basement membrane, the semipermeable sheet on which the cells rest, and interdigitations, as well as cellular junctions. Surface Epithelium: Histology found in the respiratory tract
Image: “Pseudostratified ciliated columnar” by BruceBlaus. License: Public DomainInner structure of a cilium (singular of cilia)
Image: “ Eukaryotic Eukaryotic Eukaryotes can be single-celled or multicellular organisms and include plants, animals, fungi, and protozoa. Eukaryotic cells contain a well-organized nucleus contained by a membrane, along with other membrane-bound organelles. Cell Types: Eukaryotic versus Prokaryotic cilium diagram” by LadyofHats. License: Public DomainThere is no gold standard diagnostic test for PCD, but the following evaluations aid in the diagnosis:
Electron microscope photograph of the ciliary structure in a bronchiole:
Left: diagram of the ciliary internal structures
Middle: cross-section image obtained using electron microscopy
Right: The
microtubules
Microtubules
Slender, cylindrical filaments found in the cytoskeleton of plant and animal cells. They are composed of the protein tubulin and are influenced by tubulin modulators.
The Cell: Cytosol and Cytoskeleton are labeled.
Chest
X-ray
X-ray
Penetrating electromagnetic radiation emitted when the inner orbital electrons of an atom are excited and release radiant energy. X-ray wavelengths range from 1 pm to 10 nm. Hard x-rays are the higher energy, shorter wavelength x-rays. Soft x-rays or grenz rays are less energetic and longer in wavelength. The short wavelength end of the x-ray spectrum overlaps the gamma rays wavelength range. The distinction between gamma rays and x-rays is based on their radiation source.
Pulmonary Function Tests diagnosing Kartagener syndrome:
Mild
cardiomegaly
Cardiomegaly
Enlargement of the heart, usually indicated by a cardiothoracic ratio above 0. 50. Heart enlargement may involve the right, the left, or both heart ventricles or heart atria. Cardiomegaly is a nonspecific symptom seen in patients with chronic systolic heart failure (heart failure) or several forms of cardiomyopathies.
Ebstein’s Anomaly with pulmonary congestion and dextrocardia (arrow) noted in a patient with a form of primary ciliary dyskinesia. Kartagener syndrome (primary ciliary dyskinesia: situs inversus, chronic
sinusitis
Sinusitis
Sinusitis refers to inflammation of the mucosal lining of the paranasal sinuses. The condition usually occurs concurrently with inflammation of the nasal mucosa (rhinitis), a condition known as rhinosinusitis. Acute sinusitis is due to an upper respiratory infection caused by a viral, bacterial, or fungal agent.
Sinusitis, and bronchiectasis)
Treatment is individualized and guided by the clinical presentation Presentation The position or orientation of the fetus at near term or during obstetric labor, determined by its relation to the spine of the mother and the birth canal. The normal position is a vertical, cephalic presentation with the fetal vertex flexed on the neck. Normal and Abnormal Labor of the patient.