Kartagener Syndrome - An Overview

Introduction:

Kartagener syndrome is a disorder of the respiratory tract in which the tiny hair-like structures (cilia) get affected. There is recently no definitive cure for Kartagener syndrome, but affected people can be treated for their symptoms with antibiotics to get rid of respiratory infections and tubes for the ears to prevent ear infections from occurring frequently. Also, although unproven, early diagnosis is likely important for the preservation of pulmonary function, quality of life, and life expectancy in this disease.

What Is Kartagener Syndrome?

Kartagener syndrome, also termed Kartagener’s triad, Siewert’s syndrome, or Afzelius’ syndrome, is a condition in which recurrent infections take place that are frequently seen to affect the lungs, ears, nose and cause infertility. This might result in long-term lung damage if not treated timely. It is seen to occur as a genetically acquired syndrome which might comprise several features like:

• Situs Inversus - In this condition, major organs are on a different side of the body rather than normal, like the heart on the right rather than the left.

• Primary Ciliary Dyskinesia (PCD) - It is a condition in which the tiny hairs (cilia) present within the organs, like the nose, ears, and lungs, do not function properly, due to which mucus and bacteria are not cleared effectively. It can result in chronic glue ear, rhinitis, sinusitis, and recurrent chest infections.

• Bronchiectasis - In this condition, abnormal dilatation of the airways occurs.

What Are the Symptoms of Kartagener Syndrome?

The signs and symptoms of Kartagener syndrome can vary as per their severity and degree among individuals. Not all symptoms are seen to affect every child. The primary symptom of Kartagener syndrome is lung problems. Because the cilia do not function correctly, trouble might be faced while moving debris and fluid from the lungs. The severity of symptoms can vary, but they usually begin at the time of birth.

The initial sign noted is when a baby coughs, chokes, gags, and goes into neonatal (newborn) respiratory distress immediately after birth. This takes place because proper cilia are required to clear any amniotic fluid from the womb out of the lungs of a newborn. Some conditions that might be seen as a result of recurrent chest infections are

1. Difficulty while breathing.

2. Production of cough.

3. Wheezing.

4. Recurring chest infections.

5. Nasal congestion and polyps (swellings).

6. Recurring infections of the ear.

7. Sinusitis occurs again and again.

What Is the Differential Diagnosis of Kartagener Syndrome?

Certain conditions that might need to be considered are:

1. Allergic Rhinitis- An atopic disease presenting with symptoms of sneezing, nasal congestion, clear rhinorrhea, and nasal pruritis

2. Adenoid Hyperplasia- It is an obstructive condition related to an increased size of the adenoids.

3. Allergic Bronchopulmonary Aspergillosis- It is a fungal infection of the lung due to a hypersensitivity reaction.

4. Bronchial Obstruction- It is a universal pathologic issue; it is common among newborns.

5. Conditions linked to bronchiectasis.

6. Immunodeficiency States With Recurrent Infections - IgG, IgA deficiencies, abnormalities of leukocyte function, and conditions affecting primary antibody production.

7. Abnormal Clearance of the Secretions - This could lead to immotile cilia syndrome, cystic fibrosis, and Young's syndrome (In this disorder people have normally functioning lungs but tend to produce thick, viscous mucus, which increases their risk of developing pulmonary infections.).

How Is Kartagener Syndrome Diagnosed?

Kartagener syndrome can be diagnosed with any of the below-mentioned techniques:

Chest Radiograph- These findings rely on the severity of underlying bronchiectasis. Findings might show bronchial wall thickening and bronchial dilatation with the loss of normal peripheral tapering:

1. The predilection involves the right middle, the singular segment of the left upper lobe, and the lower lobes.

2. Mucus plugs might be visible (finger in glove sign).

3. Consolidation.

4. Situs abnormality, i.e., situs inversus.

CT (Computed Tomography) Scan- CT tends to describe bronchiectasis, which might be of varying severity. However, changes are minimal than in cystic fibrosis. The morphology of bronchiectasis can be tubular, cylindrical, saccular, or cystic. Also, CT shows:

1. Consolidation.

2. Mucocele affected mucus in bronchioles.

3. Tree-in-bud pattern or centrilobular nodules.

4. Might be encountered with mucus impaction and endobronchial spread of infection.

5. Mosaic perfusion or air trapping as ancillary findings.

6. Eventual scarring might be seen due to recurrent infection, requiring pulmonary resection surgery.

7. Bronchial arterial enlargement might be noted.

Pulmonary Function Tests- It might be abnormal:

1. Spirometry might indicate an obstructive image with a decrease in the ratio of forced expiratory volume in one second to forced vital capacity, decreased forced expiratory volume in one second, and a reduction in respiratory flow of 25 to 75 percent.

2. Static lung volumes may demonstrate hyperinflation.

3. The response to bronchodilators is variable.

How Is Kartagener Syndrome Treated?

There is no definitive cure for Karnetger syndrome. However its symptoms can be minimized, the main treatments focus on keeping airways clear and loosening and getting rid of thick, extra fluid, mucus, and debris. This is termed as airway clearance therapy and it resembles cystic fibrosis treatment. It helps keep the lungs and tissue as healthy as possible for as long as possible.

Another treatment protocol includes a combination of physiotherapy and a low threshold for antibiotics are advised for minimising the severity of lung disease.

Physiotherapy:

This will be taught by a physiotherapist and might be recommended on a daily or intermittent basis. This normally consists of the positioning of the child plus various techniques, which will be taught. This process allows gravity to help in the proper clearance of chest secretions.

Antibiotics:

Antibiotics might be administered orally or by drip intravenously. Oral antibiotics might be administered on a daily basis or intermittently as per the child’s condition. Intravenous antibiotics are administered on an intermittent basis as needed. Occasionally children are put on inhaled antibiotics too.

Specific Kartagener syndrome treatment includes:

• Regular sinus washes.

• Regular ear canal washes.

• Steroids.

• Mucus thinners are called mucolytics.

• Antibiotics

• Bronchodilators for the relaxation of lung muscles for easier breathing.

• Ear tubes.

• Speech therapies.

• Hearing aids or devices.

• Heart surgery for defects.

• Lung transplant in severe cases.

Conclusion:

Kartagener syndrome patients are frequently troubled by recurring infection episodes of the chest, ear, nose, etc., due to obstruction in the cilia. They need to seek medical attention, and this is largely the reason for their morbidity. But infertility is also one of the crucial aspects that need to be adequately tackled in their evaluation so that they might be offered a suitable option that could help them have children. This syndrome has no particular cure, but its symptoms can be regulated with certain therapies, with or without antibiotics. This can ease the quality of life.