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July 23, 2026PulmonologyOpen Access

Primary Ciliary Dyskinesia: Insights from a Portuguese tertiary centre cohort

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Authors

STSofia Teixeira-OliveiraIPInês Pais‐CunhaSLSusana S. Lopes

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Overview

Retrospective study reveals diagnostic trends and treatment differences in age groups with PCD, highlighting the need for early intervention.

Key Points

  • This research aims to investigate the clinical and diagnostic characteristics of patients with primary ciliary dyskinesia in a Portuguese tertiary center.
  • Retrospective analysis of PCD patients followed at a Portuguese tertiary hospital from 2001–2024.
  • Inclusion of 35 confirmed PCD patients: 13 children and 22 adults.
  • Evaluation of diagnostic methods, mutations, pulmonary function, and treatment differences.
  • Median age at diagnosis was 7 years for children and 38.5 years for adults.
  • DNAH5 mutations were most frequent in 31.3% and DNAH11 in 12.5%.
  • Treatment patterns differed: children used hypertonic saline more (p = 0.003) and adults used bronchodilators more (p = 0.035).

Cite This Study

Teixeira-Oliveira et al. (2026) studied this question.

synapsesocial.com/papers/6a61afe0faa9903c5116a92ahttps://doi.org/10.1080/25310429.2026.2704422
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Also Consider

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