Cystic fibrosis differential diagnosis

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Shaghayegh Habibi, M.D.[2], Karina Zavaleta, MD [3], Anmol Pitliya, M.B.B.S. M.D.[4]


Overview

Cystic fibrosis has to be differentiated from other conditions with similar presentation of cough and wheeze like common cold, asthma, bronchiolitis, emphysema, primary ciliary dyskinesia (Kartagener syndrome), bronchitis, bronchiectasis, foreign body aspiration, pneumoconiosis, interstitial lung disease, cardiogenic pulmonary edema, GERD and sarcoidosis.

Cough

Cystic fibrosis must be differentiated from other diseases presenting with cough and wheeze include:

Organ system Diseases Clinical manifestations Diagnosis Other features
Symptoms Physical exam
Onset Duration Productive cough Hemoptysis Weight lost Fever Dyspnea Ascultation Lab findings Imaging PFT Gold standard
Respiratory Upper airway diseases Common Cold[1] Acute
  • 3-10 days
- - -
  • Bacterial culture is not indicated
  • Normal function
  • Clinical diagnosis
Lower airway Asthma[2] Chronic
  • Years
✔ Clear mucoid or yellow sputum - - -
  • Family history
  • Seasonal variation
Acute Bronchitis[3] Acute
  • From 5 days to 1 or 3 weeks
- - -
  • FEV1 < 80%
  • Clinical diagnosis
Chronic Bronchitis[4][5] Chronic
  • Most of the days for three months in the las two years.
✔ Clear sputum - -
Primary Ciliary Dyskinesia

(Kartagener Syndrome)

Chronic
  • Years
-
  • Mild to moderate obstructive ventilatory defect
  • Not specific
  • May be normal
Bronchiectasis[6] Chronic
  • Months to years
✔ Mucopurulent sputum -
  • CT of chest
Emphysema [7] Chronic
  • Months to years
✔ Mucoid or purulent sputum - -
  • Exposure of tobacco and air pollution
Foreign body aspiration[8][9][10] Acute
  • Variable
-
  • No specific
  • Not specific
  • In children <1 year and adults >75 years
  • Organic materials in children
  • Inorganic materials in adults
Bronchiolitis[11][12] Acute
  • 8-15 days
-
  • Clinical diagnosis
Parenchyma Cystic fibrosis [13][14] Chronic
  • Variable
-
  • Evidence of CFTR dysfunction
Pneumoconioses[15][16] Acute, Chronic
  • Years
- -
Interstitial lung disease[17][18] Chronic
  • Variable
- -
  • Lung biopsy when lab, imaging, and PFT has indeterminate result
Cardiac Cardiogenic pulmonary edema[19][20] Acute
  • Days to weeks
✔ Pink frothy, liquid - -
  • Not specific
  • Clinical diagnosis
  • Tests are supportive
Gastrointestinal Gastroesophageal reflux[21][22] Chronic
  • Variable
- -
  • Not specific
  • Normal function
  • PH testing
--
Autoinmune Sarcoidosis[23][24] Chronic
  • Years
- -

References

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  14. Kerem E, Reisman J, Corey M, Canny GJ, Levison H (1992). "Prediction of mortality in patients with cystic fibrosis". N. Engl. J. Med. 326 (18): 1187–91. doi:10.1056/NEJM199204303261804. PMID 1285737.
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