Elsevier

Respiratory Medicine

Volume 109, Issue 3, March 2015, Pages 347-356
Respiratory Medicine

Clinical features of primary ciliary dyskinesia in Cyprus with emphasis on lobectomized patients

https://doi.org/10.1016/j.rmed.2015.01.015Get rights and content
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Summary

Background

Despite the manifestations of primary ciliary dyskinesia (PCD) in early life, the diagnosis is often much delayed. Since 1998 in Cyprus, we have established the only national diagnostic and clinical referral center for PCD.

Objective

To review the phenotypic features at presentation of PCD patients in Cyprus in relation to age at diagnosis, with emphasis on previously lobectomised patients.

Methods

The medical records of the diagnosed PCD patients were retrospectively reviewed to obtain clinical data on presentation.

Results

Thirty patients, aged 13.9 years (range 0.1, 58.4 years), were diagnosed with PCD. Twelve of them presented after the age of 18. The most common manifestations were chronic cough (100%), chronic rhinorrhea (96.7%), sputum production (92.9%), laterality defects (63.3%), a history of pneumonia (53.3%) and neonatal respiratory distress (50%). A history of lobectomy in the past was recorded in 16.7% (5 patients). Patients who presented in adulthood had significantly higher frequency of lobectomy (41.7% vs 0%, p-value = 0.006) and had more frequently low FEV1 (58.3% vs 0%, p-value = 0.015) than those who presented before. Serial measurements of FEV1 and FVC indicated significantly lower intercepts in lobectomised compared to the adult non-lobectomised patients both in terms of FEV1 (−4.90 vs −1.80, p-value = 0.022) and FVC (−5.43 vs −1.91, p-value = 0.029) z-score levels. Change in FEV1 and FVC across time was not statistically significant in either group.

Conclusions

PCD often remains undiagnosed up to adulthood accompanied by appearance of advanced lung disease. Performance of lobectomies seems to be a poor prognostic factor for PCD in adulthood.

Keywords

Primary ciliary dyskinesia
Diagnosis
Lung function
Lobectomy

Abbreviations

PCD
Primary ciliary dyskinesia
TEM
Transmission electron microscopy
CBF
Ciliary beat frequency
CBP
Ciliary beat pattern
HSVM
High speed video microscopy
nNO
Nasal nitric oxide
CT
Computed tomography
BMI
Body mass index
FEV1
Forced expiratory volume in one second
FVC
Forced vital capacity
AIC
Akaike Information Criterion
BIC
Bayesian Information Criterion

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