Chest
Volume 145, Issue 4, April 2014, Pages 738-744
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Original Research: Genetic and Developmental Disorders
Differences in Disease Expression Between Primary Ciliary Dyskinesia and Cystic Fibrosis With and Without Pancreatic Insufficiency

https://doi.org/10.1378/chest.13-1162Get rights and content

Background

Impaired mucociliary clearance causes pulmonary disease in primary ciliary dyskinesia (PCD) and contributes to cystic fibrosis (CF) lung disease. Although the sinopulmonary disease is similar, morbidity and mortality are different. Both patients with PCD and patients with CF with pancreatic sufficiency (CF-PS) show no nutrient malabsorption and are diagnosed at a later age compared with patients with CF with pancreatic insufficiency (CF-PI).

Methods

Clinical status, microbiology, FEV1, and high-resolution CT (HRCT) scans presented as total Brody score (CT-TBS) were compared for patients with PCD, CF-PI, and CF-PS, all treated at the same medical center, by the same team, and by a similar routine follow-up.

Results

One hundred sixty-four patients, 34 with PCD, 88 with CF-PI, and 42 with CF-PS were enrolled. PCD was diagnosed at a similar age as CF-PS but significantly later than CF-PI. Mean FEV1 % predicted was similar for the three groups. The rate of FEV1 change with age in PCD was similar to CF-PS but significantly lower than in CF-PI. Severity of structural lung disease (CT-TBS) was similar for PCD and CF-PS and significantly higher in CF-PI. No correlation between TBS or Pseudomonas aeruginosa infection and FEV1 in PCD was seen, whereas a negative correlation with FEV1 was observed for both CF groups.

Conclusions

Although in our study PCD was similar to CF-PS, the lack of correlation between FEV1 and age, CT-TBS, and P aeruginosa infection in PCD suggests that impaired mucociliary clearance is not the only cause for inducing pulmonary damage in these diseases. Furthermore, a comparison of disease characteristics for PCD and CF should distinguish between CF-PI and CF-PS as different entities.

Section snippets

Materials and Methods

Patients with confirmed diagnosis of PCD or CF, who were treated at the Hadassah Medical Center from 2007 to 2011 and for whom spirometry, HRCT scan, sputum cultures, and pancreatic sufficiency test data were available, were included in the study. The study was approved by the Hadassah Medical Center Institutional Review Board, and written informed consent was waived (Committee on Research Involving Human Subjects of the Hebrew University—Hadassah Medical School, 0324-08-HMO).

The CF and PCD

Results

A total of 164 patients, 34 with PCD and 130 with CF (88 with CF-PI [67.7% of patients with CF, 53.7% of the study population] and 42 with CF-PS [32.3% of CF and 25.6% of all patients]), were enrolled. Table 2 summarizes the clinical presentation of all patients. Patients with PCD and CF-PI were similar in age and younger than the CF-PS group (P = .074 and 0.014, respectively). Additionally, PCD was diagnosed at a significantly later age compared with the total CF group (P = .002) but at a

Discussion

To our knowledge, this is the first study comparing disease expression between PCD and CF, analyzing separately CF-PI and CF-PS. Patients with PCD, like those with CF-PS, do not suffer from pancreatic insufficiency and are generally diagnosed at a later age compared with patients with CF-PI. In PCD, in contrast to results seen for both CF groups, no correlation between FEV1 and TBS or between FEV1 and age was found. For PCD, these data provide further support that FEV1 is not a strong predictor

Acknowledgments

Author contributions: Prof Kerem is guarantor of the manuscript, taking responsibility for the integrity of the data and accuracy of the data analysis.

Dr Cohen-Cymberknoh: contributed to conception and design of the study, acquisition of data, analysis of the results, and revision of the manuscript and provided final approval of the version to be published.

Dr Simanovsky: contributed to performing the CT scans, analysis, calculations of TBS, and revision of the manuscript and provided final

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    Drs Cohen-Cymberknoh and Simanovsky contributed equally to this manuscript.

    Funding/Support: This study was funded by departmental grants from Hadassah Hebrew University Hospital.

    Reproduction of this article is prohibited without written permission from the American College of Chest Physicians. See online for more details.

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