Kartagener's Syndrome

Kartagener’s syndrome is an autosomal recessive disorder affecting the cilia within the body. Autosomal recessive means that one or more of both the parents’ genes responsible for encoding the cilia’s structure are mutated. This essay will focus on the etiology, clinical manifestations and anatomic alterations while also exploring diagnostic and treatment modalities. Cilia are the tiny hair-like structures found in many organ systems including the respiratory and reproductive systems. It was diagnosed by a Swedish physician Manes Kartagener in 1933. Since Kartegner’s syndrome is a autosomal recessive disorder each child of the affected parents have a twenty five percent chance of developing the syndrome. According to Zariwala,“it is estimated
that in the United States, there are 12,000 to 17,000 people who have the condition” (Zariwala). Kartagener’s syndrome often presents as a newborn suffering from mild to moderate respiratory distress. As the neonate transitions into extrauterine life, tachypnea and the need for supplemental oxygen is often apparent. Many babies affected by the disease also have persistent crackles or rhonchi when auscultating their chest. Some patients may also have an wheezes similar to patient’s with asthma(Bergström, Sten-Erik). This is caused by the inability for the neonate to clear the secretions from their airway. When performing a physical assessment of the chest you will often find that there is a hyper resonant percussion note, as well as, decreased tactile fremitus (Clinical Manifestations). Patients who suffer from Kartagener’s syndrome are known to have chronic upper respiratory infections due to the cilia’s ineffectiveness to protect the body from pathogens being inhaled, and the inability to effectively remove secretions (Clinical Manifestations). Recurring respiratory infections will damage the airway’s structure causing more consequences as time passes. A chronic productive cough which worsens in the morning and after exercise is also a common indicator that a patient may have Kartagener’s syndrome. The sputum culture of a Kartagener’s syndrome patient is often found to have Sputum Haemophilus flu, Streptococcus pneumonia, and Staphylococcus auerus which can become Pseudonomas aeruginosa. (Bergström, Sten-Erik) Situs inversus, or the mirror image reversal of organs is found in many patients with Kartagener’s syndrome.
In fact, Darlene Oakley is quoted saying “Situs inversus is what sets Kartagener’s syndrome apart from primary ciliary dyskenia” (Oakley, Darlene). Over fifty percent of patients who are diagnosed with Kartagener’s syndrome have situs inversus. It is not known to cause serious health consequences and often is undetected until a chest radiograph is obtained. (Bergström, Sten-Erik) The cause of situs inverses begins in the first few weeks of gestation, when “embryonic ciliary movement is vital to the normal function and proper placement of the chest and abdominal organs during the closing of the abdominal and thoracic cavities.(Perinatal and Pediatric Resp. Care).” If the patient who has Kartagener’s syndrome has ineffective or inefficient ciliary movement, the neonate’s organs will essentially become flip flopped because the cilia cannot properly place the organs.  As the patient ages more clinical symptoms become apparent which include chronic sinus infections as well as chronic nasal congestion because the cilia cannot remove pathogens before entering the sinus cavity. Chronic otitis media, or chronic ear infections can occur due to an excess build up of secretions that get trapped within the ear. (Perinatal and Pediatric Resp. Care) This recurrent accumulation of fluid inside the ear often leads to scarring and permanent damage to the acoustic structures, commonly
resulting in hearing loss or complete deafness. Males affected by Kartagener’s syndrome may also have problems with infertility as they mature because the flagella, or sperm have an abnormal motion which makes them less successful. Females also can have infertility, because of the impaired cilia movement in the Fallopian tubes. In severe and rare cases, hydrocephalus, or cerebro-spinal fluid upon the brain may occur. This is caused by failed ciliary movement responsible for draining excess fluid resulting in brain damage. (Zariwala) Anatomical Alterations caused by Kartagener’s syndrome are a result of chronic respiratory infections as well as the other clinical manifestations.
This may lead to changes within the body similar to bronchiectasis. As a matter of fact, “Kartegener’s syndrome accounts for as much as 20% of all congenital bronchiectasis (Clinical Manifestations).” These Anatomical Alterations include increased bronchial wall thickness due to scar tissue, hyperinflation of the lungs and an increased size of the airways. Common symptoms associated with bronchiectasis include a chronic cough, fatigue, and increased work of breathing.  The diagnosis of Kartagener’s syndrome is very thorough and contains many different aspects and methods. The most common and efficient way of diagnosing is through Genetic testing, including the ciliary ultrastructure analysis and molecular genetic testing. During these tests they analyze pathogenic variants while testing multiple genes that could be related to the disease. There are thirty-two known genes associated with PCD according to GeneReviews. Mutations are primarily found in five chromosomes including DNAH5, DNAH9, DNAAF3, DNALI1, and RSPH9. These chromosomes are responsible for the inner and outer dynein arms, protein assembly, and radial spokes which contribute to a functioning cilia structure.
(Zariwala) Light and electron microscopy of the chromosomes reveal an abnormal ciliary count and structure. During the microscopic evaluation they look for ciliary movement, beat frequency, and defects in the structure. The defects in structure can include protein or number of dynein arms and radial spokes. Most commonly the structural defect is an absent or inadequate amount of dynein arms. While looking at the frequency and movement of the cilia, if they beat less than 10Hz/second it is an indication of Kartagener’s syndrome. (Bergström, Sten-Erik) While genetic and microscopy diagnosis is very definitive, it is time-consuming and very expensive. Cheaper, more instant diagnostic procedures, which are commonly done before the genetics testing, are available in the clinical setting. A diagnostic bronchoscopy is considered the gold standard because the physician can examine the mucous membrane and get samples needed for the microscopic analysis. Less invasive tests are also highly recommended when diagnosing Kartagener’s syndrome. (Oakley, Darlene) This includes a pulmonary function test, which commonly shows an obstructive lung disorder. Hyperinflation and air trapping caused by the disease process results in a decreased FEV1/FVC ratio, as well as decreased inspiratory flow. Another common way to help diagnose Kartagener’s syndrome is a computed tomography scan which will show hyperinflation. As well as CT scans, a chest radiograph is an effective way to identify clinical manifestations and anatomical alterations. The chest x-ray of a patient with Kartagener syndrome will document hyperinflation, thickening of bronchial wall, increased density, and darkening of the lung fields (Clinical Manifestations). If the patient has situs inversus it will also be apparent on the chest x-ray. Non-invasive means of diagnosing may also include the saccharin test and nitrous oxide test, but they are not as commonly used due to practicality. (Bergström, Sten-Erik) Since Kartagener’s syndrome is incurable the general management of the patient is key to giving them the best life possible. Treatment options include mucus clearance, medications, and preventative modalities. Chest physiotherapy treatment is one of the most important treatment modalities due to the cilia movement causing inadequate secretion removal. Since traditional chest therapy is not practical, especially with children, most patients use a high-frequency chest wall oscillator vest. The use of anti-tussive medications is discouraged because coughing is one of the few ways to remove the secretions. Some physicians may even prescribe flutter therapy to loosen or mobilize the secretions. (Perinatal and Pediatric Resp. Care) Medication therapy is also an effective way to manage the disease process. Nebulized humanDnase, or Pulmozyme helps reduce sputum viscosity, improve function, and results in less infections. Actelcysteine, known by the brand name, Mucomyst are used to thin out the secretions is effective, but research is still being done to see how effective it is. Bronchodilator and beta 2 antagonist help alleviate symptoms associated with Kartagener’s syndrome. Since Kartagener’s syndrome is not preventable, most of the therapy is used to decrease risk of infection. (Perinatal and Pediatric Resp. Care). As a result of chronic respiratory infections being the main issue of Kartagener’s syndrome, prophylactic antibiotics are given to help reduce the incidence of bacterial infections. Vaccines should be given to patients with Kartagener’s syndrome to prevent serious illnesses include pneumococcal and influenza (Oakley, Darlene). I was curious what treatments consisted of and how they changed especially with children as they age, so I asked a mother who’s children have Kartagener’s syndrome. She stated that “The biggest thing that has changed since they were infants is their ability to communicate how they are feeling to me such as if their lungs feel tight or extra gunky. They do their 30 minute treatments morning and night with their neb medications” (Wilmsmeyer, Mandy). Raising awareness and teaching the patient, especially while young, the signs of increased work of breathing as well as infections can help prevent infections and other complications before they can begin. As well as preventative measures, most Pulmonologists require you have at least one appointment with them a year as well as having you take a Pulmonary Function Testing annually to make sure your condition is not worsening. Due to the presence of chronic ear infections, hearing loss can be a major problem. Hearing loss is treated with tympanostomy tubes and hearing aids, as well as speech therapy. (Zariwala) In conclusion, Kartagener’s syndrome is a genetic disorder that affects the cilia within the mucous membranes throughout the nose, lungs, and sinuses, as well as reproductive system. There are many clinical manifestations and anatomical alterations that can cause problems within the body. Treatment options are a wide variety but most are preventative rather than treating the underlying cause itself. With successful and adequate care, most patients are able to live a normal life. This includes playing sports and living an active lifestyle. In fact, when asked “Are there any specific things such as treatments your children must do before their games or practices?”, a mother of three children with Kartagener’s syndrome responded with “They tend to get a little more winded than most kids due to lower lung function. We usually don’t need to do any extra treatments though” (Wilmsmeyer, Mandy). Not only are people affected by this condition able to enjoy everyday activities that people without the condition can, it helps keep their lungs healthy.