Kartagener's Syndrome (KS), also known as ciliary dyskinesia syndrome or primary ciliary dyskinesia (PCD), is a rare genetic disease in which some cellular elements (cilia and flagella) do not function properly. This genetic disorder causes alterations in ciliary motility due to mutations in different genes.
The diagnosis of Kartagener's Syndrome is based on the identification of a triad of clinical symptoms: situs inversus, sinusitis, and bronchiectasis. Subsequently, to confirm the clinical diagnosis, a microscopic study of the hair cells is carried out in the laboratory.
This genetic disorder can be life-threatening because of the multi-systemic clinical picture it generates. Also, most men and women with Kartagener's Syndrome have fertility problems.
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Kartagener's Syndrome is a rare disease of genetic origin that belongs to the group of primary ciliary dyskinesia. This syndrome is present from birth and its inheritance is autosomal recessive. For this reason, both partners must be carriers of the disease for their offspring to be affected by the syndrome.
This genetic disorder is characterized by structural alterations in the cilia and flagella present in the respiratory and gonadal tissues, leading to poor functioning of these structures.
Kartagener's syndrome is a rare disease with a low prevalence in the population. To be specific, there is one in every 20,000 people born alive with this syndrome.
Cause of Kartagener's Syndrome
The etiology of this disorder is mutations in the genes responsible for the synthesis of ciliary proteins, which causes alterations in the structure of the body's hair cells. Specifically, the main cause of the syndrome is a defect in the cilia of the airways or the gonads.
Cylia is a filamentous structure that covers numerous cells and performs various functions. These include clearing the airways by moving mucus outward and, as for the reproductive system, moving gametes through the fallopian tubes.
Some of the genes affected in Kartagener's Syndrome are the DNAI1 located on chromosome 9, the DNAI1 on chromosome 7 and the DNAH5 on chromosome 5. These genes encode elements of a protein called dyneinand are responsible for the movement of cilia and flagella.
This ciliary motility disorder causes recurrent respiratory infections due to decreased mucociliary clearance, a mechanism for cleaning the nasal mucosa.
People suffering from Kartagener's Syndrome have a wide variety of symptoms, although this condition is characterized by a clinical triad composed of:
- Situs inversus
- inversion of the circulatory system and the viscera. This is an incorrect placement of the organs on the opposite side from the corresponding one.
- swelling of the sinuses, that is, the spaces inside the nose and head.
- dilation of the bronchi, which can cause asthma in patients.
Other clinical manifestations that patients describe that can help in the diagnosis of Kartagener's Syndrome are the following:
- Chronic cough.
- Chronic Rhinitis.
- Kidney diseases.
- Central nervous system problems.
These symptoms are present during the individual's early childhood years, either in greater or lesser severity. As patients approach adulthood, the symptoms become more severe.
Therefore, it is necessary to carry out exhaustive controls and treat each patient's clinical picture appropriately to avoid endangering their lives.
Diagnosis of Kartagener's Syndrome
Normally, the diagnosis of Kartagener's Syndrome is complicated because it is a rare disease and each person shows some symptoms.
However, this syndrome can be suspected if the person presents the 3 typical symptoms mentioned above (situs inversus, sinusitis, and bronchiectasis). In this case, it is necessary to confirm the diagnosis by an analysis of the nasal epithelial cells and also of the cells of the bronchi under observation in the electron microscope.
It should be noted that it is not always possible to find defects in the cilia in all patients who show the typical clinical picture of Kartagener's Syndrome.
Other tests that are performed to establish a correct diagnosis are described below:
- Measure ciliary mobility in vitro.
- Saccharin test in children. This test consists of depositing a few degrees of saccharine in the nose and calculating the time that elapses until its taste is perceived.
- Study of the rotation of nasal epithelial cells.
- Evaluating the volume of nitric oxide, since patients with Kartagener's Syndrome have a lower value than the normal value of nitric oxide.
- Genetic testing.
It must be taken into account that to reach a definitive diagnosis of Kartagener's Syndrome, several samples must be taken in different places of the respiratory tract and at different times. Moreover, in most cases, the diagnosis is usually late, since the clinical picture is similar to other more frequent diseases.
As we have already mentioned, Kartagener's Syndrome is a genetic disorder and therefore has no cure. The management of this syndrome must be multifactorial since it has different clinical pictures.
In general, therapy for Kartagener's Syndrome consists of alleviating each person's symptoms. So, the therapeutic options that exist are:
- Vaccination against respiratory diseases.
- Antibiotics for infections.
- Lung transplantation.
- Pulmonary physiotherapy.
The treatment of this syndrome must be specific, multidisciplinary, and adapted to each patient. Besides, all patients should avoid smoking and exposure to smoke.
Kartagener's syndrome and fertility
Kartagener's Syndrome is a genetic cause of asthenozoospermia in men. However, this syndrome can also affect women's fertility by making it difficult for eggs to move through the fallopian tubes.
Therefore, patients with Kartagener's Syndrome need assisted reproduction treatments to achieve a pregnancy.
Most women with Kartagener's Syndrome have fertility problems, even though they have a normal ovarian cycle. The main problem is that the eggs are not able to travel properly through the fallopian tubes.
The tubes are lined with cilia that help the egg move to the area where the encounter with the sperm and fertilization takes place. Once the egg is fertilized by the sperm, the embryo formed travels to the uterus to implant.
For this reason, those women affected by Kartagener's Syndrome have greater difficulties for fertilization to occur. Also, these women have a high rate of ectopic pregnancy, since the embryo is not able to reach the uterus due to the structural alteration of the cilia.
The solution for women with Kartagener Syndrome to achieve a pregnancy is to resort to In vitro fertilization (IVF). Through this procedure, the eggs are extracted by follicular puncture and fertilized by the sperm in the laboratory. The embryos are then transferred directly to the uterus.
The problem that men with this disorder have is called asthenozoospermia or asthenospermia. This is a sperm disorder where most of the sperm are immobile. These sperm are usually alive, although they do not move and are not able to fertilize the egg.
The sperm does not reach the egg because they have structural alterations in their flagellum (tail of the sperm). This is why men with Kartagener's Syndrome can become parents through IVF-ICSI. In this case, it is the specialist himself who selects the spermatozoa and introduces them into the interior of the oocyte using microinjection.
If you would like more information about this assisted reproduction technique, you can continue reading on the following link: Sperm Microinjection: What Is ICSI Technique?
FAQs from users
Why do women with Kartagener's syndrome suffer from infertility?
Kartagener's syndrome is a genetic disease that affects the respiratory system. In addition, we also find impacts on the female reproductive system, and therefore on fertility.
Patients suffering from Kartagener's syndrome have a decreased motility of the fallopian tubes. This means that after ovulation, the tubes may not perform their function and may aspirate the egg and transport it to the endometrium.
If the woman's ovarian reserve is good, these patients will have a good prognosis of pregnancy with In Vitro Fertilization (IVF) treatment. By performing fertilization in the laboratory, we eliminate the problem of the tubes. The same is true for women whose fallopian tubes are blocked or dilated.
Is Kartagener's syndrome a hereditary disease?
Yes. Kartagener's Syndrome is a genetic disease and its inheritance pattern is autosomal recessive. Therefore, it is necessary for both parents to carry the mutation in order for the offspring to suffer from this syndrome.
Does Kartagener's Syndrome have a good prognosis?
The prognosis of patients with Kartagener's Syndrome depends on the severity of the syndrome, the time of diagnosis and the effectiveness of the treatment administered.
If the infections are treated early, the life of these patients is not in danger. However, this is not the case if it is not detected in time. For this reason, regular check-ups by the doctor are necessary.
Suggested for you
Asthenozoospermia is the main cause of sterility suffered by men with Kartagener's Syndrome. If you are interested in learning more about this sperm alteration, you can read on in the following article: What is asthenozoospermia? definition, causes, and treatment.
We also invite you to have a look at the following article where you will obtain information on the causes of sterility in women due to an injury to the fallopian tubes: Tubal factor infertility: causes and treatment.
The solution for women with Kartagener Syndrome to achieve a pregnancy is to resort to In vitro fertilization (IVF). If you want to know the process of this assisted reproduction treatment in a more detailed way I recommend you continue reading in the following article: How does in vitro fertilization work step by step?
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