immobile cilia syndrome
Introduction
Introduction to immobile cilia Immotile Cilia Syndrome (ICS) is a multiple genetic disease caused by defects in cilia structure. It is autosomal recessive, including abnormal Kartagener syndrome and other monogenic diseases. The incidence rate is about 1:30000~1:60000. . ICS is a genetically related cilia structural defect, mainly a defect in the cilia arm or radiation, which causes abnormal movement of the cilia and dysfunction of the cilia on the mucosa, resulting in repeated infection. The sperm tail is a special cilia. When its structure is abnormal, the sperm loses its motor function and causes infertility. During embryonic development, if the cilia structure is abnormal, due to the lack of normal ciliary oscillation, visceral rotation will occur randomly; in the 10 to 15 days of gestation, the left rot of the viscera instead of the normal right rotation will cause the organ to be transposed. basic knowledge The proportion of illness: 0.0025% Susceptible people: no specific people Mode of infection: non-infectious Complications: sinusitis, nasal polyps
Cause
Causes of immobile cilia syndrome
Cause:
The disease is autosomal recessive, and it has been confirmed that the cilia axis contains more than 100 kinds of polypeptides, and any one of the polypeptides is defective, which can cause the same pathological results, and thus has obvious genetic heterogeneity, and has a pilin arm portion. Or complete loss (single lateral or medial cilia protein arm deletion, or bilateral deletion), with radiation defects, central sheath loss, typical clinical symptoms and normal cilia ultrastructure, in which the cilia protein arm is completely missing The most common (74%).
Prevention
Immobilization of cilia
The incidence of ciliary immobility syndrome is very high in areas where close relatives are married, and patients often have history of respiratory obstructive diseases and infections. Some male infertility patients have sperm that survive but cannot move, and the reason that hinders sperm movement is due to structural abnormalities in the axis of the sperm flagella. About 50% of patients have visceral translocation, the patient's sexual organs are also developing normally, the amount of semen and sperm count are in the normal range, semen staining shows that sperm is alive, but can not move or exercise very little, ultrastructural examination can be seen Pathological changes.
Complication
Immobilization of cilia syndrome Complications, sinusitis, nasal polyps
Due to chronic rhinitis, sinusitis, caused by retention of mucus or purulent secretions in the sinus, pus in the nostrils, nasal polyps, abnormal frontal sinus or other sinus hypoplasia, abnormalities in the middle ear and eustachian tube ciliary, can cause chronic recurrence Otitis media, perforation of the tympanic membrane, pus in the ear, loss of the ability of the sperm tail to swing can cause infertility, abnormal cilia structure of the embryonic ciliated cells, can cause partial or complete transposition of the internal organs.
Symptom
Symptoms of immobile cilia syndrome Common symptoms Ciliary structure defects purulent secretions atelectasis hemoptysis dyspnea purulent middle ear and eustachian tube cilia abnormalities
Early onset, often in the early stage of neonatal or infantile, airway obstruction, difficulty breathing, due to cilia structural defects and clearing dysfunction, recurrent upper respiratory tract infection, chronic bronchitis or interstitial pneumonia, leading to atelectasis Bronchiectasis, manifested as cough, sputum, hemoptysis, dyspnea and other symptoms, due to chronic rhinitis, sinusitis, caused by retention of mucus or purulent secretions in the sinus, nostril pus, there may be nasal polyps, frontal sinus abnormalities or Other sinus hypoplasia, etc., middle ear and eustachian tube cilia abnormalities, can cause chronic recurrent otitis media, tympanic membrane perforation, ear pus, sperm tail loss of swing ability can cause infertility, embryonic ciliated cell cilia structure abnormalities, can cause visceral parts Or fully indexed.
Examine
Examination of immobile cilia syndrome
According to chest X-ray, bronchography, sinus X-ray, CT scan, etc., bronchodilation, sinusitis and visceral displacement can be diagnosed. Nasal and bronchial mucosal biopsy, a cilia abnormality seen under an electron microscope can be a positive diagnosis. The immunological examination is generally normal. The chest X-ray of the patient is generally normal.
Diagnosis
Diagnosis and identification of immobile cilia
The diagnosis can be confirmed according to the patient's clinical manifestations and mucosal biopsy.
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.
Respiratory infections: Clinical performance is not the same. For example, infection of the nasopharynx, cough caused by secretions, often at night; sinusitis, in addition to persistent cough, often accompanied by tenderness of the sinus; and pharyngitis in addition to cough, pharyngeal itching and dry symptoms Obvious; children's laryngitis is characterized by a special hoarseness, similar to a broken bamboo cough.
Bronchiectasis: Due to the accumulation of secretions in the bronchiectasis, secretions spur the bronchial mucosa causing coughing and sputum excretion. Cough and cough are often increased in the morning or at night when you are in bed. When the infection is acute, the yellow-green purulent sputum is obviously increased, and it can reach hundreds of milliliters per day. If there is odor, it indicates that there is an anaerobic infection. When infected, the sputum was collected in a glass bottle and left to stand after stratification. The upper layer was foam, the lower suspicious component, the middle layer was turbid mucus, and the lower layer was necrotic tissue sediment.
