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Kartagener Syndrome Treatment & Management

  • Author: John P Bent, III, MD; Chief Editor: Ryland P Byrd, Jr, MD  more...
 
Updated: Feb 27, 2014
 

Medical Care

General management

Kartagener syndrome represents a wide array of patients along the clinical spectrum; accordingly, management must be tailored towards each individual patient. Continuous clinical follow up is one of the best means of providing this type of individualized care.

Medical management

Maintenance of dwindling pulmonary function is the primary end goal of clinical treatment. Because of the lack of major randomized control trials involving patients with Kartagener syndrome, no firm guidelines exist for management and most of those currently used are modified from prior cystic fibrosis studies.

Barbot et al compiled existing evidence to formulate general clinical recommendations. They include patients having at least biannual clinical visits, which would involve routine spirometry, sputum culture, and, if needed, imaging studies. It was found that antibiotic treatment was effective for exacerbations.[30]

Antibiotics, intravenous or oral and continuous or intermittent, are used to treat upper and lower airway infections. Although prophylactic antibiotics should be used with great caution in this era of emerging antibiotic resistance, children with primary ciliary dyskinesia are especially good candidates for long-term low-dose preventative antibiotics. New studies have supported prophylactic therapy, with gentamicin demonstrating decreased exacerbation frequency.[14]

Obstructive lung disease, if present, should be treated with inhaled bronchodilators and aggressive pulmonary toilet. Mucolytics may be helpful. Anecdotal reports indicate that inhaled antibiotics, oral and inhaled corticosteroids, and recombinant human DNAse have been used, but no large studies support the use of these agents.[31] It has been found that regular bronchodilators, recombinant human deoxyribonuclease (rhDNase), and N -acetylcysteine have not been proven to be effective, but still are used occasionally in attempts at symptomatic relief.

It has been postulated that breaking up mucosal secretions with nebulized hypertonic or normal saline could be effective.

Pulmonary physiotherapy and exercise also have been shown in some studies to improve respiratory quality.

The most common infectious organisms affecting children with primary ciliary dyskinesia are Haemophilus influenza and Staphylococcus aureus. All patients should have the pneumococcal vaccine and a yearly flu vaccine in addition to standard childhood immunizations. Few long-term trials to measure clinical outcomes and statistical efficacy have been conducted for most medical management strategies.[30]

Strippoli et al found a substantial heterogeneity in management of primary ciliary dyskinesia within and between countries and poor concordance with current recommendations, demonstrating a need to standardize management in this patient population.[32]

Smoking risk

Patients with Kartagener syndrome ultimately have an inefficient mucociliary clearance, which is used primarily to prevent toxic and irritant substances from remaining within the respiratory tract. Without this mechanism, patients are much more prone to the complications of such toxins. Patients who smoke cigarettes or have persistent exposure to second-hand smoke are much more likely to develop reactive pneumonias and respiratory distress.

Smoking has been found to have multiple deleterious effects on respiratory cilia. Baseline ciliary beat frequency is increased to clear the irritant, but when the system has an underlying dysmotility, this becomes a less effective response.[14, 15] Children exposed to cigarette smoke may develop additional structural defects to nasal mucosa, causing ciliary function to further decline.[33] Additionally, microscopic models have demonstrated that cigarette smoke also can reduce the length of respiratory cilia.[34]

Ultimately, smoking can cause a more rapid deterioration of lung function in patients with Kartagener syndrome, who lack the usual protective mechanisms. Thus, smoking cessation is critical in the Kartagener patient population, as is avoidance of second-hand smoke.

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Surgical Care

Tympanostomy tubes are required to reduce conductive hearing loss and recurrent infections. Many patients undergo repeated tympanostomy tube insertions, often complicated by chronic suppurative otitis media. Chronic otorrhea may require special measures for aural hygiene, such as regular otomicroscopy, acetic acid irrigations, or culture-guided topical or systemic antibiotic therapy. Because of anticipated long-term middle-ear disease, inserting tympanostomy tubes is the most sensible method of maintaining the myringotomy because the tube can be expected to stay in the tympanic membrane longer than routine grommets.

When sinus disease is refractory to medical management, functional endoscopic sinus surgery leads to transient improvement in upper and lower respiratory tract symptoms.[35] The antiquated procedure of making a nasal antral window underneath the inferior turbinate may have a role in the management of primary ciliary dyskinesia because this procedure relies on gravitational rather than ciliary clearance of mucus.

Lobectomy may have a role in cases of severe bronchiectasis, but this is not specific to patients with Kartagener syndrome. Reports describe patients who have undergone lung transplantation; however, no studies illustrate long-term efficacy and outcomes.[14]

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Consultations

Consultations from an otolaryngologist, geneticist, pulmonologist, social services agent, or obstetrician/gynecologist or urologist/male fertility specialist (infertility) may be indicated.

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Activity

Activities can be performed as tolerated; however, patients usually experience mild limitations in physical tolerance.

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Contributor Information and Disclosures
Author

John P Bent, III, MD Professor, Director of Pediatric Otolaryngology, Departments of Otolaryngology-Head and Neck Surgery and Pediatrics, Albert Einstein School of Medicine; Director, Airway Clinic, Cochlear Implant Program, Children's Hospital at Montefiore

John P Bent, III, MD is a member of the following medical societies: American Academy of Otolaryngology-Head and Neck Surgery, Society of University Otolaryngologists-Head and Neck Surgeons, American Society of Pediatric Otolaryngology, Society for Ear, Nose and Throat Advances in Children, Triological Society

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 and Neck Surgery, American Medical Student Association/Foundation, Wilderness Medical Society

Disclosure: Nothing to disclose.

Arvind K Badhey, MD Resident Physician, Department of Otolaryngology, Icahn School of Medicine at Mount Sinai

Disclosure: Nothing to disclose.

Specialty Editor Board

Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Received salary from Medscape for employment. for: Medscape.

Daniel R Ouellette, MD, FCCP Associate Professor of Medicine, Wayne State University School of Medicine; Chair of the Clinical Competency Committee, Pulmonary and Critical Care Fellowship Program, Senior Staff and Attending Physician, Division of Pulmonary and Critical Care Medicine, Henry Ford Health System; Chair, Guideline Oversight Committee, American College of Chest Physicians

Daniel R Ouellette, MD, FCCP is a member of the following medical societies: American College of Chest Physicians, Society of Critical Care Medicine, American Thoracic Society

Disclosure: Nothing to disclose.

Chief Editor

Ryland P Byrd, Jr, MD Professor of Medicine, Division of Pulmonary Disease and Critical Care Medicine, James H Quillen College of Medicine, East Tennessee State University

Ryland P Byrd, Jr, MD is a member of the following medical societies: American College of Chest Physicians, American Thoracic Society

Disclosure: Nothing to disclose.

Additional Contributors

Ryland P Byrd, Jr, MD Professor of Medicine, Division of Pulmonary Disease and Critical Care Medicine, James H Quillen College of Medicine, East Tennessee State University

Ryland P Byrd, Jr, MD is a member of the following medical societies: American College of Chest Physicians, American Thoracic Society

Disclosure: Nothing to disclose.

Acknowledgements

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.

References
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Axial CT image showing dextrocardia and situs inversus in a patient with Kartagener syndrome. Image courtesy of Wikimedia Commons.
Axial CT image showing situs inversus (liver and inferior vena cava on the left, spleen and aorta on the right) in a patient with Kartagener syndrome. Image courtesy of Wikimedia Commons.
Normal cilia (A) compared with cilia in Kartagener syndrome with missing dynein arms (B). Image courtesy of Wikimedia Commons.
Table. Mutations in the Genes that Cause Human Primary Ciliary Dyskinesia [14]
Human Gene Human Chromosomal Location Chlamydomonas Ortholog Ciliary Ultrastructure in Subjects with Biallelic Mutations Presence of Laterality Defects Percentage of Individual with Biallelic Mutations MIM No.
DNAH5 5p15.2 DHC ? ODA defect Yes 15–21% of all PCD, 27–38% of PCD with ODA defects 608644
DNAI1 9p21-p13 IC78 ODA defect Yes 2–9% of all PCD, 4–13% of PCD with ODA defects 244400
DNAI2 17q25 IC69 ODA defect Yes 2% of all PCD, 4% of PCD with ODA defects 612444
DNAL1 14q24.3 LC1 ODA defect Yes na 614017
CCDC114 19q13.32 DC2 ODA defect Yes 6% of PCD with ODA defects 615038
TXNDC3 (NME8) 7p14-p13 LC5 Partial ODA defect (66% cilia defective) Yes na 610852
DNAAF1 (LRRC50) 16q24.1 ODA7 ODA + IDA defect Yes 17% of PCD with ODA + IDA defects 613193
DNAAF2 (KTU) 14q21.3 PF13 ODA + IDA defect Yes 12% of PCD with ODA + IDA defects 612517, 612518
DNAAF3 (C19ORF51) 19q13.42 PF22 ODA + IDA defect Yes na 606763
CCDC103 17q21.31 PR46b ODA + IDA defect Yes na 614679
HEATR2 7p22.3 Chlre4 gene model 525994 Phytozyme v8.0 gene ID Cre09.g39500.t1 ODA + IDA defect Yes na 614864
LRRC6 8q24 MOT47 ODA + IDA defect Yes 11% of PCD with ODA + IDA defects 614930
CCDC39 3q26.33 FAP59 IDA defect + axonemal disorganization Yes 36–65% of PCD with IDA defects + Axonemal disorganization 613798
CCDC40 17q25.3 FAP172 IDA defect + axonemal disorganization Yes 24–54% of PCD with IDA defects + Axonemal disorganization 613808
RSPH4A 6q22.1 RSP4, RSP6 Mostly normal, CA defects in small proportion of cilia No na 612649
RSPH9 6p21.1 RSP9 Mostly normal, CA defects in small proportion of cilia No na 612648
HYDIN 16q22.2 hydin Normal, very occasionally CA defects No na 610812
DNAH11 7p21 DHC ß Normal Yes 6% of all PCD, 22% of PCD with normal ultrastructure 603339
RPGR Xp21.1 na Mixed No PCD cosegregates with X-linked Retinitis pigmentosa 300170
OFD1 Xq22 OFD1 nd No PCD cosegregates with X-linked mental retardation 312610
CCDC164 (C2ORF39) 2p23.3 DRC1 Nexin (N-DRC) link missing; axonemal disorganization in small proportion of cilia No na 312610
CA = central apparatus; IDA = inner dynein arm; MIM = Mendelian Inheritance in Man; na = not available; N-DRC = nexin–dynein regulatory complex; ODA = outer dynein arm; PCD = primary ciliary dyskinesia.
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