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Kartagener Syndrome Differential Diagnoses

  • Author: John P Bent, III, MD; Chief Editor: Ryland P Byrd, Jr, MD  more...
Updated: Feb 28, 2014

Differential Diagnoses

  • Adenoid hyperplasia

  • Allergic bronchopulmonary aspergillosis

  • Alpha1-Antitrypsin Deficiency

  • Bronchial obstruction

  • Chronic Obstructive Pulmonary Disease (COPD)

  • Chronic aspiration

  • Congenital cartilage deficiency

  • Cystic fibrosis

  • Foreign body aspiration

  • Idiopathic interstitial pneumonias

  • Idiopathic nasal polyposis

  • Immunosuppression

  • Inhalation of toxic substances

  • Interstitial lung diseases, including idiopathic pulmonary fibrosis

  • Malignancy

  • Postinfectious bronchiectasis

  • Pulmonary sequestration

  • Samter triad

  • Severe atopy

  • Tracheobronchomegaly

  • Tumor

  • Yellow nail syndrome

Contributor Information and Disclosures

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.


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.


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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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.
DNAH55p15.2DHC ?ODA defectYes15–21% of all PCD, 27–38% of PCD with ODA defects608644
DNAI19p21-p13IC78ODA defectYes2–9% of all PCD, 4–13% of PCD with ODA defects244400
DNAI217q25IC69ODA defectYes2% of all PCD, 4% of PCD with ODA defects612444
DNAL114q24.3LC1ODA defectYesna614017
CCDC11419q13.32DC2ODA defectYes6% of PCD with ODA defects615038
TXNDC3 (NME8)7p14-p13LC5Partial ODA defect (66% cilia defective)Yesna610852
DNAAF1 (LRRC50)16q24.1ODA7ODA + IDA defectYes17% of PCD with ODA + IDA defects613193
DNAAF2 (KTU)14q21.3PF13ODA + IDA defectYes12% of PCD with ODA + IDA defects612517, 612518
DNAAF3 (C19ORF51)19q13.42PF22ODA + IDA defectYesna606763
CCDC10317q21.31PR46bODA + IDA defectYesna614679
HEATR27p22.3Chlre4 gene model 525994 Phytozyme v8.0 gene ID Cre09.g39500.t1ODA + IDA defectYesna614864
LRRC68q24MOT47ODA + IDA defectYes11% of PCD with ODA + IDA defects614930
CCDC393q26.33FAP59IDA defect + axonemal disorganizationYes36–65% of PCD with IDA defects + Axonemal disorganization613798
CCDC4017q25.3FAP172IDA defect + axonemal disorganizationYes24–54% of PCD with IDA defects + Axonemal disorganization613808
RSPH4A6q22.1RSP4, RSP6Mostly normal, CA defects in small proportion of ciliaNona612649
RSPH96p21.1RSP9Mostly normal, CA defects in small proportion of ciliaNona612648
HYDIN16q22.2hydinNormal, very occasionally CA defectsNona610812
DNAH117p21DHC ßNormalYes6% of all PCD, 22% of PCD with normal ultrastructure603339
RPGRXp21.1naMixedNoPCD cosegregates with X-linked Retinitis pigmentosa300170
OFD1Xq22OFD1ndNoPCD cosegregates with X-linked mental retardation312610
CCDC164 (C2ORF39)2p23.3DRC1Nexin (N-DRC) link missing; axonemal disorganization in small proportion of ciliaNona312610
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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