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Kartagener Syndrome

Gemma Kim, MD, Chan Hee Lee, PhD, MD and Tae K Kim, MD Reviewed 04/2024
 


BASICS

DESCRIPTION

  • Kartagener syndrome (KS) is a rare autosomal recessive genetic disorder characterized by defects in the ultrastructure of cilia impairing their motility. It is also referred to as pr...

DIAGNOSIS

HISTORY

  • Presentation typically includes cardinal features of upper and lower respiratory tract infections.

  • Respiratory distress manifests in neonatal period and persists year round.

  • Lower respi...

TREATMENT

GENERAL MEASURES

  • There is no cure for Kartagener Syndrome.

  • Limit first hand and/or secondhand tobacco smoke exposure as well as other environmental pollutants.

  • Recommended for patients to be up...

ONGOING CARE

FOLLOW-UP RECOMMENDATIONS

Patient Monitoring

  • Monitor for progression of lung disease is strongly recommended:

    • Including spirometry to determine pulmonary function level and sputum cultures o...

REFERENCES

1
Knowles MR, Daniels LA, Davis SD, et al. Primary ciliary dyskinesia. Recent advances in diagnostics, genetics, and characterization of clinical disease. Am J Respir Crit Care Med. 2013;188...

CODES

ICD10

Q89.3 Situs inversus 

SNOMED

42402006 Kartagener syndrome (disorder) 

CLINICAL PEARLS

  • KS is characterized by defects in the ultrastructure of cilia impairing their motility.

  • Is also referred to as PCD

  • Impaired motility results in an array of abnormalities including, situs...

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