Ciliary structural defects

Introduction Most occur in immobile cilia syndrome, when the cilia is not active, the structural abnormalities of the cilia, such as the loss of the power arm, the defects of the spokes, the abnormal arrangement of the microtubules, etc., can cause paralysis of the ciliary tract of the respiratory tract, and the dysfunction of the cilia mucus transmission, resulting in the whole body. The cilia cannot move, resulting in chronic recurrent suppurative pulmonary inflammation, sinusitis, otitis media, and male infertility. Autosomal recessive inheritance, half of patients with visceral translocation, it is currently considered that Kartagener syndrome is a type of intrinsic.

Cause

There are more than 20 kinds of abnormal ultrastructures of cilia, mainly including kinesin arm defects, microtubule defects, radial wheel defects, and disordered microtubule arrangement. Further ciliary biopsy is needed to assist in the diagnosis. Since the cilia structure is composed of at least 200 proteins and has a large number of potential genes, it is unlikely that genetic testing will be used as a diagnostic tool in a short period of time.

The cilia abnormalities include: the presence of ciliated cells on the surface of the protein-powered arm, and the distribution of cilia in the paranasal sinus, eustachian tube, middle ear, and the like. In addition, there are ciliary structures in the fallopian tubes, sperm, and the ependymal membranes of the brain and spinal cord. The distribution of cilia in the bronchus of the airway is different, with the most atmospheric channels, fewer small airways, and no ciliary structure on the alveolar sac and alveoli. Each ciliated cell has approximately 200 cilia, with a cilia diameter of approximately 0.1 to 0.2 m and a length of approximately 3 to 7 m. Each cilia includes a body, a base and a crown. The cross section is circular under the electron microscope. There is a pair of central microtubes in the center, and 9 pairs of surrounding microtubules are evenly surrounded on the outer circumference. Microtubule structure.

Under normal circumstances, hundreds of millions of cilia on the mucous membranes of the respiratory tract act as "scavengers". They oscillate in one direction, so that the dust and bacteria in the inhaled bronchus are discharged to the throat together with the cell debris of the respiratory tract and the secreted mucus, forming a sputum coughing out of the body. When the cilia structural defects cause the cilia to move, the bacteria cannot be excreted, accumulated in the bronchi, causing bronchiectasis, and even eroding into the lungs, causing pneumonia.

an examination

Related inspection

General radiography examination bronchography chest CT examination lung biopsy

According to chest X-ray, bronchography, sinus X-ray, CT scan can diagnose bronchiectasis, sinusitis and visceral displacement. Nasal and bronchial mucosal biopsy, a cilia abnormality seen under an electron microscope can be a positive diagnosis.

Differential diagnosis

The disease should be differentiated from chronic respiratory infections and bronchiectasis. Mucosal and cilia dysfunction can also occur in bronchial asthma, but there are no special defects in the cilia structure.

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