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

Panayiotis K Yiallouros1, Panayiotis Kouis2, Nicos Middleton3

  • 1Cyprus International Institute for Environmental & Public Health in Association with Harvard School of Public Health, Cyprus University of Technology, Limassol, Cyprus; Department of Pediatrics, Hospital "Archbishop Makarios III", Nicosia, Cyprus.

Respiratory Medicine
|February 21, 2015
PubMed

Insights

Primary ciliary dyskinesia (PCD) diagnosis is often delayed, leading to advanced lung disease in adulthood. Lobectomies in PCD patients indicate a poor prognosis, highlighting the need for early diagnosis and intervention.

Area of Science:

  • Pulmonology
  • Genetics
  • Rare Diseases

Background:

  • Primary ciliary dyskinesia (PCD) often presents in early life but diagnosis is frequently delayed.
  • Cyprus established its sole national diagnostic and clinical referral center for PCD in 1998.

Purpose of the Study:

  • To review phenotypic features of diagnosed PCD patients in Cyprus at presentation.
  • To correlate these features with age at diagnosis, specifically examining patients with a history of lobectomy.

Main Methods:

  • Retrospective review of medical records for diagnosed PCD patients.
  • Data collection focused on clinical presentation and diagnostic timelines.

Main Results:

  • Thirty PCD patients (age range 0.1-58.4 years) were diagnosed; 12 presented after age 18.
  • Common symptoms include chronic cough, rhinorrhea, sputum, laterality defects, pneumonia history, and neonatal respiratory distress.
  • Adult-presenting patients had higher rates of prior lobectomy (41.7%) and lower FEV1 (58.3%) compared to pediatric-presenting patients.

Conclusions:

  • Delayed diagnosis of PCD contributes to advanced lung disease in adulthood.
  • A history of lobectomy appears to be a negative prognostic factor for PCD patients presenting in adulthood.
Abstract

Keywords:
DiagnosisLobectomyLung functionPrimary ciliary dyskinesia

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