Kartagener syndrome falls under the umbrella of primary ciliary dyskinesia and is a condition that involves abnormalities of the cilia inside the respiratory tract and fallopian tubes and flagella of sperm cells. Cilia and flagella are small tubes that help cells to move and interact with the environment, which makes them vital for healthy living. The condition also involves situs inversus, which is when internal organs are positioned abnormally.
Definition & Facts
Kartagener syndrome occurs when a patient's cilia and flagella cannot move properly. It is rare for them to be completely immobile, but their reduced movement is enough to cause a variety of symptoms. People with Kartagener syndrome also have their organs arranged differently than healthy individuals, but the defective cilia are responsible for the vast majority of the symptoms. The disease is relatively poorly understood by scientists, and many patients experience different symptoms, so treatment can vary significantly from one patient to the next.
Symptoms & Complaints
There is an increased risk of infections for adults, both in the lungs and sinuses. Any untreated infection can be harmful, but lung infections are particularly problematic and can cause permanent damage to the respiratory system.
Symptoms sometimes afflict other parts of the body that are closely connected to the respiratory system, especially the ears. Ear infections are less common than respiratory problems, but they do happen, especially in children. These infections can sometimes lead to permanent deafness.
Since the syndrome also hurts flagella, it can also lead to infertility in men due to damaged sperm cells. The abnormally positioned internal organs that come with the syndrome can make surgeries more difficult for some doctors, but are unlikely to cause medical problems on their own for most patients.
Each person has two copies of each gene, one from each parent. A person must inherit one of the mutations that can cause Kartagener syndrome from both parents to suffer from the disease. People who only have one copy of the mutation are genetic carriers that can pass it on to their children, but they do not suffer from any of the symptoms themselves. This means that most carriers do not realize that they have a chance to pass the syndrome on to their children.
Scientists have found several genes that can cause the syndrome, and a person can be a carrier for several of them at the same time without suffering from it, as long as they only have one copy of each individual gene. Some people suffer from Kartagener syndrome without having any of the known mutations that can cause it, which implies that there are causes that scientists have not discovered. These causal factors are most likely mutations that have not been discovered yet.
Diagnosis & Tests
Most cases are diagnosed after a physician notices that a patient suffers from respiratory infections and congestion more often than the average person. There are many diseases that can cause those symptoms, so physicians check for the other signs of Kartagener syndrome before making a diagnosis.
The diagnosis can be confirmed with a genetic test. Some of the mutations that can cause Kartagener syndrome are unknown, so false negatives do happen, but alternative tests exist that can provide confirmation.
A doctor can take a small sample of a patient's sinuses or lungs to examine the cilia. The doctor puts the sample under an electron microscope, which is strong enough to examine individual parts of the cells, and investigates the sample for signs of damage.
Any structural abnormalities in the cilia can be a sign of Kartagener syndrome, and the combination of the syndrome's symptoms and the examination of the cilia is enough to diagnose the disease.
Treatment & Therapy
Treatment for Kartagener syndrome focuses on dealing with the symptoms. There is currently no treatment that can cure the disease itself, but most patients can reduce the symptoms to a manageable level. Certain types of respiratory and sinus infections can be treated with antibiotics, although it is important for patients to seek treatment as quickly as possible to prevent permanent damage from them.
Congestion can be treated with airway clearance techniques. These include coughing and controlled breathing methods that can clear mucus from the airways. Mechanical breathing assistance can help in extreme cases, but it usually is not necessary. The worst cases may be treated with lung transplants.
Prevention & Prophylaxis
People who do suffer from Kartagener syndrome can prevent the worst of the problems by seeking treatment as soon as they discover signs of an infection and by getting vaccinated for influenza and other diseases that can provoke those infections.