eMedicine Specialties > Pulmonology > Congenital Disorders

Kartagener Syndrome: Differential Diagnoses & Workup

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
Coauthor(s): Esther X Vivas, MD, Staff Physician, Montefiore Medical Center, Bronx, New York
Contributor Information and Disclosures

Updated: Apr 2, 2009

Differential Diagnoses

Alpha1-Antitrypsin Deficiency
Immunosuppression

Other Problems to Be Considered

Adenoid hyperplasia
Allergic bronchopulmonary aspergillosis
Bronchial obstruction
Chronic aspiration
Congenital cartilage deficiency
Cystic fibrosis
Idiopathic nasal polyposis
Inhalation of toxic substances
Postinfectious bronchiectasis
Pulmonary sequestration
Samter triad
Severe atopy
Tracheobronchomegaly
Yellow nail syndrome

Workup

Laboratory Studies

  • Semen analysis in postpubescent males may reveal abnormal sperm motility and ultrastructure.

Imaging Studies

  • Sinus radiographs (which largely have been supplanted by CT scans) typically demonstrate mucosal thickening, opacified sinus cavities, and hypoplastic frontal sinuses.
  • Chest radiographs may illustrate bronchial wall thickening as an early manifestation of chronic infection, hyperinflation, atelectasis, bronchiectasis, and situs inversus (in 50% of patients with primary ciliary dyskinesia). The presence of situs inversus strongly suggests Kartagener syndrome (KS).10
  • Bronchiectasis occurs in the lower lobes in patients with Kartagener syndrome and immunoglobulin deficiency, while bronchiectasis predominantly occurs in the upper lobes of patients with cystic fibrosis.
  • High-resolution CT scan of the chest is the most sensitive modality for documenting early and subtle abnormalities within airways and pulmonary parenchyma when compared to routine chest radiographs. Consideration should be given to this imaging technique early in the presentation of primary ciliary dyskinesia (PCD) syndromes, when a chest radiograph may not be sensitive enough to identify disease processes or when another differential is being considered.

Other Tests

  • Screening tests include the saccharin test and the measurement of nasal and exhaled nitric oxide.
    • Saccharine test: Saccharin or another substance is placed in the nose, and the speed of transport into the nasopharynx is measured to calculate mucociliary clearance (used infrequently because of awkwardness and dubious reliability).
    • Nitric oxide:  In patients with primary ciliary dyskinesia, exhaled and nasal nitric oxide is low.11
  • Audiologic testing usually demonstrates a flat tympanogram and bilateral conductive hearing loss secondary to thick middle-ear effusion.
  • Pulmonary function studies
    • Spirometry often reveals an obstructive ventilatory defect with decreases in the ratio of forced expired volume in 1 second to forced vital capacity, reduced forced expired volume in 1 second, and a reduced forced expiratory flow of 25-75%.
    • Static lung volumes also may demonstrate hyperinflation.
    • The response to bronchodilators is variable in patients with primary ciliary dyskinesia.

Procedures

  • Mucosal biopsy
    • The specimen should come from ciliated epithelium, preferably when the patient is not acutely ill. Infectious processes can alter cilia and cause secondary ciliary dyskinesia, even in a healthy host.
    • Tracheal biopsies require general anesthesia but provide excellent specimens. Nasal mucosa is more readily available. Nasal brushing is least invasive but frequently yields an inadequate specimen.
    • Children with suspected primary ciliary dyskinesia often require an adenoidectomy. Because adenoid tissue has a ciliated surface, adequate material is available for histopathologic and electron microscope examination. Knowledge of this fact should eliminate the need for other invasive biopsies.
  • Nasal endoscopy is a sensitive indicator for nasal polyposis.

Histologic Findings

The mucosal biopsy specimen should be examined for ciliary movement using light microscopy. Light microscopic quantitation of ciliary beat frequency, coordination, and amplitude, although available in very few medical centers, can identify ciliary dyskinesia in patients with normal ultrastructure. Light microscopy alone offers a reliable and simple method of excluding PCD, but light microscopy and electron microscopy in combination provide a higher degree of accuracy.

The specimen should be placed in glutaraldehyde and sent for electron microscopy, which is the criterion standard examination for the diagnosis of primary ciliary dyskinesia. Quantitative diagnostic criteria do not exist; however, ciliary ultrastructure is examined qualitatively for abnormalities in dynein arms (inner and outer), radial spokes, central sheaths, nexin links, and ciliary transposition and orientation. The most common ultrastructural defect is an absence or decrease in the number of inner or outer dynein arms. A radial spoke deficiency commonly appears with a dynein arm deficiency. Other ultrastructural abnormalities with nexin links, central sheaths, and ciliary transposition and orientation are considered nonspecific for primary ciliary dyskinesia because they can occur in healthy people and those with recurrent respiratory infections.

Electron microscopic diagnosis of ciliary ultrastructure is expensive, time consuming, and described by some experts as inadequate. Patients with Kartagener syndrome also may have normal ultrastructure, which decreases the sensitivity of electron microscopy.12,13

Efforts have been undertaken to standardize the clinical criteria for the diagnosis of Kartagener syndrome. These criteria include dextrocardia, a ciliary beat frequency of less than 10 Hz/s, and a mean cross-section dynein arm count of less than 2. If the patient does not have dextrocardia, primary ciliary dyskinesia presents a much greater diagnostic challenge. Genetic testing ultimately may become the principal means of establishing this diagnosis.

More on Kartagener Syndrome

Overview: Kartagener Syndrome
Differential Diagnoses & Workup: Kartagener Syndrome
Treatment & Medication: Kartagener Syndrome
Follow-up: Kartagener Syndrome
References
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References

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Further Reading

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Keywords

Kartagener syndrome, KS, immotile cilia syndrome, primary ciliary dyskinesia, PCD, situs inversus, chronic sinusitis, bronchiectasis

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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)

Esther X Vivas, MD, Staff Physician, Montefiore Medical Center, Bronx, New York
Esther X Vivas, MD is a member of the following medical societies: American Academy of Otolaryngology-Head and Neck Surgery and American Medical Association
Disclosure: Nothing to disclose.

Medical Editor

Ryland P Byrd Jr, MD, Professor, Department of Internal Medicine, Division of Pulmonary Medicine and Critical Care Medicine, James H Quillen College of Medicine, East Tennessee State University; Chief of Pulmonary Medicine, Medical Director of Respiratory Therapy, Intensive Care Unit, Program Director of Pulmonary Diseases and Critical Care Medicine Fellowship, James H Quillen Veterans Affairs Medical Center
Ryland P Byrd Jr, MD is a member of the following medical societies: American College of Chest Physicians, American Thoracic Society, and Southern Medical Association
Disclosure: Nothing to disclose.

Pharmacy Editor

Francisco Talavera, PharmD, PhD, Senior Pharmacy Editor, eMedicine
Disclosure: Nothing to disclose.

Managing Editor

Daniel R Ouellette, MD, FCCP, Associate Professor of Medicine, Wayne State University School of Medicine; Consulting Staff, Pulmonary Disease and Critical Care Medicine Service, Henry Ford Health System
Daniel R Ouellette, MD, FCCP is a member of the following medical societies: American College of Chest Physicians and American Thoracic Society
Disclosure: Boehringer Ingleheim Honoraria Speaking and teaching; Pfizer Honoraria Speaking and teaching

CME Editor

Timothy D Rice, MD, Associate Professor, Departments of Internal Medicine and Pediatrics and Adolescent Medicine, Saint 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, Executive Vice Chair, Department of Medicine, Cedars Sinai Medical Center; Professor of Medicine, David Geffen School of Medicine at UCLA
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.

 
 
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