Kartagener Syndrome

What is Kartagener syndrome?

Kartagener syndrome is also known as ciliary dyskinesia syndrome or primary ciliary dyskinesia (PCD). It is a rare genetic disease which affect lungs and also reproductive organs.
It is caused by a mutation that can occur on different genes.
Kartagener Syndrome was first described by Swiss pediatrician Manes Kartagener. He reported four cases in 1993. Hence the disease is named Kartagener syndrome.
It is mainly characterized by two abnormalities: primary ciliary dyskinesia and situs inversus.

Respiratory tract consists of nose, sinuses, middle ear, eustachian tubes, breathing tubes (trachea, bronchi and bronchioles) and throat and is lined with hair like projections called cilia. The function of the cilia is to move in a wave like motion and help to transport mucus, inhaled bacteria and dust molecules out of the respiratory tract through nose and mouth. This helps us to keep our lungs and sinuses free from germs.
In primary ciliary dyskinesia, the cilia may not move, move very little or move in wrong direction which makes it unable to expel bacteria or mucus from lungs. This may lead to frequent lung infections.
Cilia is also present in brain and in reproductive system. So, this may also cause headache and infertility problem.

It occurs when fetus is in the womb and causes vital organs to develop on opposite side of body. In some cases, only few organs may be switched, and, in some cases, all the organs may be mirror image of usual organ position.

It can be caused by changes in many different genes. These genes encode proteins which play important role in maintaining structure and function of cilia.
Several genes associated with Kartagener syndrome are identified. However, in some cases, genetic cause is unknown.
It is inherited in autosomal recessive manner meaning one must inherit a mutated gene from both parents to develop it.

It is typically suspected based on its characteristic signs and symptoms. Chest X-rays and CT scan can be used to detect lung changes characteristic of the syndrome.
Diagnosis can be confirmed by performing tissue biopsies in which a small sample of tissue is taken from area containing cilia and is examined for cilia abnormalities.
Analysis of semen is done to evaluate sperm motility. Other tests like saccharine test (to calculate mucociliary clearance rate), nitric oxide test (to calculate how much nitric oxide is exhaled) and audiologic testing can be helpful.

It cannot be completely cured. Symptoms can be managed.
Antibiotics can be used to manage respiratory infections. Vaccination can be used to prevent against pneumonia and flu.
In case of obstructive lung disease, inhaled bronchodilators, mucolytic are used. Nebulized hypertonic or normal saline is used for breaking up the mucosal secretions. Pulmonary physiotherapy can be used to improve breathing process.
Tracheotomy and bronchoscopy intervention known as ‘pulmonary hygiene’ can be performed to suction out mucus from the airways.
In case of severe lung damage, lung transplantation is recommended.