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
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
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.