Tuesday, April 2, 2013

Hereditary lung diseases- Kartagener syndrome

Kartagener syndrome has autosomal dominant type of inheritance with 50% penentrance (frequency of 1:50 000) of the pathological gene. It occurs more frequently in kinship marriages.
            Kartagener's syndrome - the combined congenital defect characterized by a triad of symptoms:
Ø     sinus viscerus inversus
Ø     chronic bronchopulmonary process
Ø     pathology of paranasal sinuses (hypoplasia or chronic sinusitis).

             Syndrome reverse arrangement of lungs is always combined with dextrocardia, and sometimes the opposite arrangement of the abdominal cavity. Reverse position of internal organs is often combined with a violation of mucociliary clearance due to congenital disorders of motor function of the ciliated epithelium of the respiratory tract.
           
                                      Clinic
              Frequent respiratory infections, recurrent bronchitis, pneumonia in the first months of life are characteristic. There is early occurrence of chronic bronchitis and pneumonia with the development of bronchiectasis and bronchiectasis symptoms (retard physical development, intoxication symptoms, cough with purulent sputum, deformation of terminal phalanges of the type of drum sticks and nails in the form of watch glasses).
               Percussion and auscultation determine dextrocardia. In the lungs, predominantly in the lower parts, mostly on the right there is variety of moist and dry rales. Periods of exacerbation are accompanied by fever, deterioration of general condition and the growth of the symptoms of intoxication.
                 Nasal breathing is hard with purulent nasal discharge. Often, there are recurrent or chronic sinusitis, otitis, polyposis of the mucous membrane of the nose and sinus.

                               Diagnostic criteria

             The diagnosis of Kartagener syndrome is set on the basis of the following
                                       syndromes.
1. Respiratory Syndrome - cough with sputum (purulent).
2. Bronchopulmonary syndrome - a shortening of the sound on percussion over
    separate areas of the lungs; persistent wet fine bubbling rales on both sides.
3. Respiratory distress syndrome - shortness of breath at rest and at low physical
     activity.
4. Symptoms of chronic hypoxia: change of the terminal phalanges in the form of
    drumsticks, dystrophy.
5. The reverse arrangement of internal organs - dextrocardia, left-sided localization of
     the lungs, difficulty in nasal breathing, sinusitis.

             Often patients with Kartagener syndrome have other defects and anomalies: polydactyly, heart, kidney anomalies, hypofunction of endocrine system etc.
              At the X-ray of lungs there are reverse position of internal organs, diffuse deformation of lung pattern, may be cysts in the lungs. The X-ray of paranasal sinuses reveales decrease lucency of sinuses.
                          
X-ray of the paranasal sinuses of girl 14 years old with chronic lung disease and polypous-purulent antritoetmoiditis.

                         
                                       X-ray of lungs of the same child.


                Bronchoscopical picture in patients with Kartagener syndrome is characterised by diffuse purulent endobronchitis. Bronchography reveales deformation of the bronchi, bronchiectasis and cysts.


        
         Bronchogram of the same patient.

         The differential diagnosis is carried out with chronic pneumonia, congenital abnormalities of bronchopulmonary system (agenesia, aplasia or hypoplasia of the right lung), in which heart is shifted into the right half of the thorax.
          The main method of treatment of Kartagener syndrome is a conservative therapy aimed at eliminating or reducing the activity of the inflammatory process in the bronchi and lungs, improving drainage and ventilation functions.
          Prognosis depends on the nature, incidence of bronchopulmonary process, the frequency of exacerbations, severity of the disease. With proper systematic treatment and regular rehabilitation prognosis is relatively favorable.

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