Kartagener syndrome
Introduction
Introduction to Kartagener Syndrome Kartagener, also known as visceral inversion - sinusitis - bronchiectasis syndrome, or familial bronchiectasis, is a congenital autosomal recessive disorder, accounting for 6% to 9% of total visceral translocation (1/8000) , accounting for 0.5% of bronchodilation (0.3% to 0.5%). The incidence rate is higher in the Caucasus, about 1/40000. About 30 cases have been reported so far in China. In 1904 Siewart first reported a case of bronchiectasis with visceral transposition. In 1933, Kartagener reported four cases of triads with total visceral transposition, bronchiectasis, and paranasal sinusitis, hence the name. In 1976, Afzelius was confirmed by electron microscopy because of the ultrastructural abnormalities of congenital cilia, resulting in cilia immobility, called immotileciliasyndrome. In 1981, Sleigh et al found that cilia were not completely immobile, but abnormal movements, resulting in the secretion of secretions can not effectively discharge bronchial dilatation, so this type of congenital disease is called primary ciliary dysfunction (PCD) or cilia Dyskinesiaciliasyndrome (DSC). Kartagener syndrome is a subtype of PCD, called Kartagener when PCD is accompanied by visceral ectopic. Has a family genetic predisposition, can occur in the same generation or intergenerational, and his parents have a history of close relatives marriage. basic knowledge The proportion of illness: 0.001% Susceptible people: no specific population Mode of infection: non-infectious Complications: chronic rhinitis sinusitis nasal polyps septal defect ventricular septal defect hydrocephalus cleft lip
Cause
Kartagener syndrome etiology
Cause:
It may be recessive or dominant, and some people think that the disease is not a genetic disease.
Pathogenesis
Visceral translocation may be the dominant pathological change of the disease, and other various changes will develop. Due to musculature cilia transport dysfunction, secretions and bacterial retention, leading to chronic infection, the formation of bronchiectasis and paranasal sinusitis The foundation of science.
Prevention
Kartagener syndrome prevention
The cause of the syndrome is still unclear. Kartagener himself believes that the combination of nasal sinusitis and bronchiectasis suggests that there is a causal relationship between the two, but it does not explain the visceral metastasis of the chest and abdomen. Recently, there are claims related to heredity.
1, active treatment of respiratory infections such as sinusitis, tonsillitis, etc., to prevent colds. Avoid inhaling toxic fumes, harmful dust, etc.
2, enhance physical fitness, improve disease resistance, adhere to appropriate physical exercise, help prevent the onset of the disease.
Complication
Kartagener syndrome complications Complications chronic rhinitis sinusitis nasal polyps atrial septal defect ventricular septal defect hydrocephalus cleft lip
The patient has chronic rhinitis, paranasal sinusitis or nasal polyps, occasional conjunctival melanosis, total visceral transposition, and may be associated with other malformations, such as atrial septal defect, ventricular septal defect, hydrocephalus, cleft lip, hoarseness and so on.
Symptom
Kartagener syndrome symptoms common symptoms atrial septal defect ventricular septal defect dyspnea sputum vocal hydrocephalus hemoptysis conjunctiva black pus
More than 15 years old before the onset, since childhood, repeated cough, cough and sputum with blood or hemoptysis, and fever, difficulty breathing, cyanosis, etc., lungs and wet voice, patients with chronic rhinitis, sinusitis or nasal polyps Occasionally, conjunctival melanosis, total visceral transposition, and other malformations, such as atrial septal defect, ventricular septal defect, hydrocephalus, cleft lip, hoarseness and so on.
Examine
Examination of Kartagener syndrome
Sinusitis and repeated infection of the respiratory tract, peripheral white blood cells can be elevated.
General fluoroscopy bronchography chest X-ray examination showed increased lung texture, cardiac transposition, bronchography can show bronchiectasis, more common in the lower lungs.
Diagnosis
Diagnosis and identification of Kartagener syndrome
Should be differentiated from sinusitis and upper respiratory tract infection, bronchiectasis.
Sinusitis: Simple sinusitis generally has no other signs. The main symptoms are nasal obstruction, purulent sputum, local pain and headache, and decreased sense of smell. Sinus CT: visible fluid level or soft tissue density in the sinus. Because of its high resolution, CT observation of lesions is more detailed and comprehensive, and is a good indicator for the diagnosis of acute sinusitis.
Upper respiratory tract infection: sneezing, stuffy nose, runny nose, pharyngeal itching and burning sensation, often fever, pharyngitis or cough, physical examination of edema of the throat, congestion, mild lymphadenopathy and tenderness of local lymph nodes.
Bronchiectasis: It is more common in adolescents. Most patients have a history of measles, whooping cough, or bronchial pneumonia in their early years. Typical symptoms are chronic cough, massive purulent sputum, and repeated hemoptysis. Fiberoptic bronchoscopy, X-ray examination can confirm the condition and differential diagnosis.
