Kartagener Syndrome: Causes, Symptoms, Treatment, Diagnosis

Kartagener’s Syndrome is an extremely rare inherited medical condition which is caused by mutations of different genes. It is an autosomal recessive trait meaning that a child needs to inherit two copies of the defective gene one from each parent to develop Kartagener’s Syndrome. Research suggests that 1 in approximately 30,000 births develop Kartagener’s Syndrome.

Kartagener’s Syndrome causes defects in the respiratory tract but the most alarming feature of this condition is that it causes the position of many vital organs of the body to get reversed. This means that the heart which is on the left side of the body is located on the right side in a child with Kartagener’s Syndrome. This phenomenon is termed as Situs Inversus.

As of now, there is no cure for Kartagener’s Syndrome and treatments are mainly aimed at managing the symptoms caused by it and improve the overall quality of life of the affected individual.

Different gene mutations result in a child to be born with Kartagener Syndrome. The function of these genes is to produce proteins that control the functioning of cilia which are small hair like structures found in various parts of the body, especially the respiratory system.

A normal functioning cilia is extremely vital for normal functioning of many vital organs of the body. Mutations of these genes result in the cilia to become immobile resulting in the development of Kartagener’s Syndrome.

There are two main characteristics of Kartagener’s Syndrome which are Primary Ciliary Dyskinesia and Situs Inversus. These conditions can cause variety of symptoms to include recurrent respiratory and sinus infections, recurrent ear infections, persistent nasal congestion, and even infertility in some people later on in life. These symptoms are mainly caused by Primary Ciliary Dyskinesia as Situs Inversus does not cause any symptoms.

Some cases of Kartagener’s Syndrome are diagnosed as early as at the time of birth of the child. The child will show respiratory distress and will require oxygen for breathing. However, maximum cases are identified during childhood when the child experiences frequent recurrent sinus and respiratory infections. The child will also suffer from frequent infections of the ears as well. The investigations conducted to identify the cause of these conditions will not be conclusive. This will make the treating physician suspect Kartagener’s Syndrome.

To confirm the diagnosis the physician will perform tests to look for presence of nasal polyps. A child with Kartagener’s Syndrome will have a decreased sense of smell which will also be tested while diagnosing Kartagener’s Syndrome. A hearing test will be done to check for any signs of hearing loss which also is a feature of Kartagener’s Syndrome.

Additionally, imaging studies, tissue biopsies, and genetic tests will be done to confirm the diagnosis of Kartagener’s Syndrome. A breathing test often is done to confirm the diagnosis of Kartagener’s Syndrome. A child with this condition tends to breathe out less nitric oxide than normal. Thus a breathing test along with the tests mentioned above will confirm the diagnosis of Kartagener’s Syndrome.

Kartagener’s Syndrome does not have any cure. The management for this condition is aimed at managing the symptoms and preventing any complications that may arise due to Kartagener’s Syndrome. The patient may be prescribed low dose antibiotics to treat the frequent respiratory and sinus infections. For severe infections, steroids may be used in limited amounts.

To drain out the collection of mucous from the lungs, a bronchoscopy may have to be done. In extreme cases where the lungs get severely damaged then a transplant may be required but such instances are quite rare.

Majority of people with Kartagener’s Syndrome lead a normal life without any problems provided they adhere to the recommendations of their treating physician and go for regular followups to prevent complications.