Williams-Campbell syndrome is a rare congenital pathology of the respiratory system caused by underdevelopment of bronchial cartilage from 2 to 8 generations, characterized by a lack of tone of their walls, dyskinesia and impaired drainage function. It is manifested by frequent recurrent inflammatory and suppurative processes of the lungs, bronchial obstruction. It is diagnosed using radiological methods of lung examination, CT and bronchoscopy. Therapeutic measures are aimed at fighting infection, improving bronchial patency. Antibiotics, bronchodilators and mucolytics, inhaled corticosteroids are prescribed.
Williams-Campbell syndrome (ballooning bronchiectasis) is a rare malformation of the bronchopulmonary system. It was first described in 1960 on the basis of long-term observations of Australian doctors G. Williams and P. Campbell for children suffering from chronic respiratory diseases. It occurs in 2% of patients receiving treatment in the department of pediatric pulmonology for such diseases. Approximately 15% of them are misdiagnosed with bronchial asthma. The disease is usually detected in early childhood, very rarely first detected in adults. Boys get sick more often than girls. Pathological changes in the walls of the airways are usually bilateral, a unilateral process is rarely observed.
Causes of Williams-Campbell syndrome
The causes of the disease have not been established. Presumably, this syndrome is a genetic pathology with an autosomal recessive type of inheritance. This theory is supported by the uniformity of damage to the cartilage of the distal bronchi, the absence of other pathological changes in the wall of the respiratory tract, the combination of the defect with congenital anomalies of other organs and systems. Several cases of balloon bronchiectasis in siblings have been described, however, the gene responsible for the formation of such changes has not yet been found. It is believed that Williams-Campbell syndrome and lobar emphysema are different manifestations of the same process – improper development of the cartilaginous framework of the airways.
This defect of the bronchopulmonary system is characterized by a lesion of the bronchi of medium caliber. Cartilaginous rings in this area of the tracheobronchial tree are absent or underdeveloped. Distal and proximal to pathologically altered organs, the bronchi have a normal structure. Due to a defect in the cartilaginous framework, the bronchial wall loses its tone, becomes soft, malleable, which leads to hypotonic dyskinesia.
During inhalation, such bronchi expand significantly, during exhalation they subside. The drainage function of the respiratory tract suffers, sputum stagnates, baggy “balloning” bronchiectasis forms. Their contents are easily and quickly infected with pathogenic and conditionally pathogenic microorganisms, a focus of chronic purulent inflammation occurs. Air bulls form in the lower parts of the lungs.
Williams-Campbell syndrome symptoms
The disease manifests in early childhood against the background of a respiratory infection. The baby’s body temperature rises significantly, a dry cough appears, subsequently quickly replaced by a wet one. Noisy whistling on exhalation (stridorous) breathing is characteristic. Pronounced shortness of breath attracts attention. The frequency of respiratory movements can reach 90 in 1 minute. The skin in the area of the nasolabial triangle acquires a bluish hue. Cyanosis becomes more pronounced when the baby is sucking or crying. Appetite is noticeably reduced. The baby listlessly sucks, refuses to drink.
At this stage, it is difficult to suspect Williams-Campbell syndrome, doctors usually diagnose pneumonia or acute obstructive bronchitis. Against the background of antibacterial therapy, there is a significant improvement in the child’s condition. After a while, the inflammatory process of the bronchopulmonary system recurs. The frequency of relapses can reach two, three or more times during the year. A sick child lags behind his peers in physical development. The chest is deformed – it becomes barrel-shaped, the sternum protrudes forward in the form of a hump or keel. The thickening of the distal phalanges of the fingers of the extremities is characterized by the type of drumsticks, the nails take the form of “watch glasses”.
Children are often seen by a pulmonologist for chronic bronchitis, COPD or bronchial asthma. Bronchopulmonary pathology is severe. Older children and adults have constant mixed or expiratory dyspnea, cough with sputum, which becomes purulent during periods of exacerbations. Episodes of severe bronchial obstruction occur against the background of upper respiratory tract infection, during physical exertion. A chronic pulmonary heart disease develops. The patient is concerned about tachycardia, cardiac arrhythmias. There are aching pains caused by hepatomegaly and a feeling of heaviness in the right hypochondrium.
Williams-Campbell syndrome is almost always complicated by pulmonary heart failure, which leads to early disability and death of the patient. Another, less frequent, threatening consequence of this congenital defect is secondary amyloidosis, which develops against the background of a chronic suppurative process. Due to the presence of air bulls in the lung tissue, spontaneous pneumothorax occurs in some cases. Occasionally solitary or multiple lung abscess are formed.
Diagnostic search is carried out by pediatric pulmonologists. When collecting anamnesis, the doctor specifies at what age the first signs of chronic bronchopulmonary disease appeared, whether there are other congenital anomalies. Examination reveals acrocyanosis or diffuse cyanotic skin tone, emphysematous barrel chest with hump-shaped or keeled deformity of the sternum, signs of distal hypertrophic osteoarthropathy. The final diagnosis is based on the following data:
- Physical examination. Percussion over the lungs is determined by the box sound. During auscultation, breathing is weakened, exhalation is prolonged. Dry whistling wet medium and small bubbly wheezes are heard. In the projection of the basal parts of the lungs, pathological respiratory noises in adults are often cracking pneumosclerotic. The heart tones are deaf, arrhythmic due to extrasystole, the heartbeat is rapid.
- Radiation diagnostics. A review chest x-ray reveals a gross amplification and deformation of the pulmonary pattern, bullous emphysema. On CT of the lungs, common bronchiectasis is determined. With kinobronchography, you can observe their expansion and decline (balloning) during the act of breathing.
- Endoscopic methods. Bronchoscopy allows you to detect common purulent endobronchitis. The process is more often bilateral, more pronounced in the lower floors of the tracheobronchial tree. There are indirect signs of the absence of cartilaginous rings in the walls of large bronchi, bronchial collapse during exhalation.
- Functional research. Spirometry confirms significant violations of the function of external respiration of a mixed type. A characteristic feature of this syndrome is a two-phase, inflected forced exhalation curve. ECG data indicate a decrease in voltage, tachycardia and signs of overload of the right parts of the heart, the results of pulse oximetry indicate a sharp decrease in blood oxygen saturation.
Williams-Campbell syndrome treatment
The main therapeutic measures for the syndrome of ballooning bronchiectasis are aimed at improving the ventilation function of the airways, preventing and relieving infectious processes. In order to restore the patency of the respiratory tract, beta-agonists of short and prolonged action, cholinolytics or their combinations are prescribed. Inhaled corticosteroids are used as topical anti-inflammatory drugs. Mucolytics and expectorants are used to improve sputum discharge. Chest massage, breathing exercises and postural drainage are recommended for patients.
Severe infectious exacerbation of the chronic inflammatory process is an indication for hospitalization of the patient in the department of pulmonology. Broad-spectrum antibiotics are prescribed, taking into account the sensitivity of the microflora present in the sputum. With severe hypoxemia, noninvasive oxygen therapy is performed. Sanitization bronchoscopies are performed. Surgical interventions are possible in patients with a unilateral process, few bronchiectasis localized within one lobe. Isolated attempts at lung transplantation in this pathology have not been successful.
Prognosis and prevention
The prognosis for this disease is always serious. Adequate therapeutic measures help to slow down the progression of the pathological process. The appearance of signs of respiratory heart failure is prognostically unfavorable. Complicated by the pulmonary heart, Williams-Campbell syndrome leads to disability and death of the patient. Primary prevention of the disease has not been developed. Secondary preventive measures are aimed at reducing the frequency of exacerbations and are reduced to careful compliance with medical recommendations.
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