Kartagenera syndrome. MCSC patient history
NewsA 19-year-old patient applied to the Pulmonology department of the MCSC with complaints about:
- shortness of breath
- frequent cough with purulent sputum
- difficulty breathing through the nose
- purulent runny nose
She told the doctor that she began to get sick as a child. At the age of 3.5 months, she had pneumonia for the first time. In the future, there was a constant cough with purulent sputum, pneumonia up to 3-4 times a year with rhinosinusitis and otitis media.
She was repeatedly hospitalized. She underwent a biopsy of the bronchial mucosa and revealed tissue atrophy with severe dysfunction.
- And at the age of 2.5, doctors diagnosed primary ciliary dyskinesia: Kartagenera syndrome.
But the prescribed treatment helped only for a short time.
The patient was examined at the MCSC.
- On computed tomography of the chest organs, the reverse arrangement of the organs was noted.
- Both lungs had multiple bronchiectasis (bronchial enlargement) and diffuse bronchiolitis (acute inflammation).
- And when examining the function of external respiration (spirometry), severe obstructive disorders were found.
Our specialists confirmed the diagnosis and prescribed complex treatment with special antibacterial therapy, inhalations with various drugs, as well as physiotherapy, vibration-percussion chest massage and physical therapy.
Against this background, the patient began to feel much better: shortness of breath, cough, amount and purulent sputum decreased, and during the control CT, the phenomena of bronchiolitis decreased. Spirometry also showed improvement in many indicators.
Primary ciliary dyskinesia (PCD) is a disease that is predominantly inherited as a result of genetic mutations, in which the mobility and functions of the cilia of the epithelium suffer due to a violation of their microstructure.
- Cilia are tiny structures located on cells in various organs. Their main function in the respiratory system is to remove mucus, dust particles, bacteria and viruses from the respiratory tract.
Patients with this disease almost from birth suffer from frequent pneumonia, purulent bronchitis, otitis media, sinusitis, bronchiectasis forms in the lungs, and the disease can also manifest itself in the reverse arrangement of internal organs (in about 50% of cases), heart defects, male infertility and ectopic pregnancies in women.
This disease is very rare and accounts for 1 case per 16,000.
When making a diagnosis, doctors study the results of X-ray and functional studies of the respiratory organs, the study of the level of nitric oxide in exhaled air (through the nose), bronchoscopy, biopsy of the respiratory mucosa, genetic studies, etc.
Antibiotics, bronchodilators, expectorants, physical therapy, massage are used for treatment, and in rare cases surgical interventions are also possible.
