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Kartagener Syndrome Clinical Presentation

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Kartagener Syndrome Clinical Presentation

Author: John P Bent lll, MD; Chief Editor: Zab Mosenifar, MD more... Updated: Apr 19, 2013

History
Patients present with chronic upper and lower respiratory tract disease resulting from ineffective mucociliary clearance. A typical presentation is that of rhinorrhea and/or mucopurulent discharge since birth. Immotile spermatozoa result in male sterility.

Physical
Kartagener syndrome is characterized by the clinical triad of chronic sinusitis, bronchiectasis, and situs inversus. The majority of patients are seen by a physician more than 50 times before the diagnosis is made at an average age of 10-14 years.[11]

Upper airway
Patients may exhibit chronic, thick, mucoid rhinorrhea from early in childhood. Examination usually reveals pale and swollen nasal mucosa, mucopurulent secretions, and an impaired sense of smell. Nasal polyps are recognized in 30% of affected individuals.[14] The recurrent chronic sinusitis typically produces sinus pressure headaches in the maxillary and periorbital region. Symptoms usually improve with antibiotic therapy but have a propensity for rapid recurrence.[14] Recurrent otitis media is a common manifestation of primary ciliary dyskinesia. Examination may reveal a retracted tympanic membrane with poor or absent mobility and a middle-ear effusion. Other associated otologic disorders may include tympanosclerosis, cholesteatoma, and keratosis obturans.[14] Middle ear symptoms in PCD patients tend to remain severe throughout childhood, with improvement only after age 18 years, and, in a recent study, grommet tympanostomy tube placement did not improve the middle ear condition. In this study, half the patients with a history of grommet placement eventually developed tympanic perforation, which is much more frequent than in the general pediatric population. These patients, therefore, should be closely followed and a specific treatment approach may be required, especially in the treatment of persistent middle ear effusion, as repeated grommet placement can predispose patients to chronic otitis and worsen the prognosis.[15]
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Kartagener Syndrome Clinical Presentation

Lower respiratory tract

Chronic bronchitis, recurrent pneumonia, and bronchiectasis are common conditions in patients with primary ciliary dyskinesia and are often caused by pseudomonal infection.[16] Thus, upon physical examination of the patient's chest, increased tactile fremitus, rhonchi, crackles, and, occasionally, wheezes may be present. Obstructive lung disease may be another component of Kartagener syndrome symptomatology. It probably results from elevated levels of local inflammatory mediators in a chronically irritated airway. Therefore, wheezing may occur. The lung examination may be normal during intercurrent periods when the airway is not actively inflamed.

Other features
Cardiovascular examination of a patient with KS demonstrates a point of maximal impulse, and the heart sounds are heard best on the right side of the chest. Extremities may exhibit digital clubbing.

Causes
The cause of primary ciliary dyskinesia is genetic, with an autosomal recessive inheritance pattern. Genome analysis has found primary ciliary dyskinesia to be genetically heterogenous. Genes DNAH5 and DNA11 on bands 5p15.1 and 9p13,3 respectively, are known to cause primary ciliary dyskinesia. Both genes encode for dynein.[17] There are more than 200 genes, however, that are predicted to be involved in cilia biology and may play a role in primary ciliary dyskinesia and other ciliopathies.[18] Recently a gene protein, CCDC40, has been characterized as playing an essential role in correct left-right patterning in mouse, zebrafish, and humans. In mouse and zebrafish, CCDC40 is expressed in tissues that contain motile cilia. Mutations in this protein result in cilia with reduced ranges of motility and likely result in a variant of primary ciliary dyskinesia characterized by misplacement of the central pair of microtubules and defective assembly of inner dynein arms and dynein regulatory complexes.[19] Onoufriadis et al have described loss-of-function mutations in CCDC114 as causing PCD with laterality malformations. The result of these mutations is a loss of the outer dynein arms. Fertility is apparently not greatly affected by CCDC114 deficiency.[20] Adenylate kinase type 7 (AK7), the mediator of the reaction of ADP to ATP and AMP, is also diminished significantly in patients with primary ciliary dyskinesia compared with healthy controls. AK7 expression has also been correlated with ciliary beat frequency in this patient population.[21]

Contributor Information and Disclosures

Author John P Bent lll, MD Associate Professor, Director of Medical Student Education, Departments of Otolaryngology - Head and Neck Surgery and Pediatrics, Albert Einstein School of Medicine; Director, Airway Clinic, Children's Hospital at Montefiore John P Bent lll, MD is a member of the following medical societies: American Academy of Otolaryngology-Head and Neck Surgery, American Medical Association, American Rhinologic Society, American Society of Pediatric Otolaryngology, Society for Ear, Nose and Throat Advances in Children, and Society of University Otolaryngologists-Head and Neck Surgeons Disclosure: Nothing to disclose. Coauthor(s) Elena B Willis, MD Resident Physician, Department of Otorhinolaryngology, Albert Einstein College of Medicine, Montefiore Medical Center Elena B Willis, MD is a member of the following medical societies: American Academy of Otolaryngology-Head
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Kartagener Syndrome Clinical Presentation

and Neck Surgery, American Medical Student Association/Foundation, and Wilderness Medical Society Disclosure: Nothing to disclose. Specialty Editor Board Ryland P Byrd Jr, MD Professor, Department of Internal Medicine, Division of Pulmonary Diseases and Critical Care Medicine, East Tennessee State University, James H Quillen College of Medicine Ryland P Byrd Jr, MD is a member of the following medical societies: American College of Chest Physicians and American Thoracic Society Disclosure: Nothing to disclose. Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference Disclosure: Medscape Salary Employment Daniel R Ouellette, MD, FCCP Associate Professor of Medicine, Wayne State University School of Medicine; Senior Academic Advisor, Pulmonary and Critical Care Fellowship Program, Henry Ford Hospital; Vice Chair, Health and Science Policy Committee, American College of Chest Physicians Daniel R Ouellette, MD, FCCP is a member of the following medical societies: American College of Chest Physicians, American Thoracic Society, and Society of Critical Care Medicine Disclosure: Nothing to disclose. Timothy D Rice, MD Associate Professor, Departments of Internal Medicine and Pediatrics and Adolescent Medicine, St Louis University School of Medicine Timothy D Rice, MD is a member of the following medical societies: American Academy of Pediatrics and American College of Physicians Disclosure: Nothing to disclose. Chief Editor Zab Mosenifar, MD Director, Division of Pulmonary and Critical Care Medicine, Director, Women's Guild Pulmonary Disease Institute, Professor and Executive Vice Chair, Department of Medicine, Cedars Sinai Medical Center, University of California, Los Angeles, David Geffen School of Medicine Zab Mosenifar, MD is a member of the following medical societies: American College of Chest Physicians, American College of Physicians, American Federation for Medical Research, and American Thoracic Society Disclosure: Nothing to disclose. Additional Contributors The authors and editors of Medscape Reference gratefully acknowledge the contributions of previous authors, Matthew Olearczyk, MD and Esther X Vivas, MD, to the development and writing of this article.

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Kartagener Syndrome Clinical Presentation

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