Primary ciliary dyskinesia

Pennekamp, Petra; Raidt, Johanna; Wohlgemuth, Kai; Olbrich, Heike; Omran, Heymut

doi:10.1183/2312508x.10017922

Cited by 3 publications

(2 citation statements)

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“…The first two chapters provide an overview of how to identify rare diseases of the respiratory system and their differential diagnosis [2,3]. The sections that follow cover rare diseases of the lung interstitium [4][5][6][7], rare diseases of the airways or alveoli [8][9][10][11][12][13], and rare pulmonary vascular diseases [14][15][16][17]. The authors of each chapter are experts in their respective fields, and they provide valuable insight into the diagnosis and treatment of rare respiratory diseases.…”

Section: Introductionmentioning

confidence: 99%

“…For instance, chapter 3 discusses ILDs and covers differential diagnosis, definitions, clinical phenotype, radiological classifications and histological characterisation [4]. Section 4 covers rare diseases of the airways or alveoli, such as bronchiolitis [8] and alveolar proteinosis [9], as well as primary ciliary dyskinesia [10], cystic fibrosis [11], bronchiectasis [12] and α 1 -antitrypsin deficiency [13]. Section 5 provides a comprehensive overview of pulmonary vascular diseases, including pulmonary arterial hypertension [14], chronic thromboembolic PH [15], and PH complicating the course of other rare lung diseases [16].…”

Section: Introductionmentioning

confidence: 99%

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Guest Editors

2023

Rare Diseases of the Respiratory System

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Guest Editors

2023

Rare Diseases of the Respiratory System

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Primäre Ciliäre Dyskinesie

Raidt,

Staar,

Omran

et al. 2024

Innere Medizin

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Molecular defects in primary ciliary dyskinesia are associated with agenesis of the frontal and sphenoid paranasal sinuses and chronic rhinosinusitis

Schramm,

Raidt,

Gross

et al. 2023

Front. Mol. Biosci.

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Background: Primary ciliary dyskinesia (PCD; MIM 242650) is a rare genetic disorder characterized by malfunction of the motile cilia resulting in reduced mucociliary clearance of the airways. Together with recurring infections of the lower respiratory tract, chronic rhinosinusitis (CRS) is a hallmark symptom of PCD. Data on genotype–phenotype correlations in the upper airways are scarce.Materials and methods: We investigated the prevalence, radiologic severity, and impact on health-related quality of life (HrQoL) of CRS in 58 individuals with genetically confirmed PCD. Subgroup analysis was performed according to the predicted ultrastructural phenotype based on genetic findings.Results: Among 58 individuals harboring pathogenic variants in 22 distinct genes associated with PCD, all were diagnosed with CRS, and 47% underwent sinus surgery. A total of 36 individuals answered a German-adapted version of the 20-item Sinonasal Outcome Test (SNOT-20-GAV) with a mean score of 35.8 ± 17, indicating a remarkably reduced HrQoL. Paranasal sinus imaging of 36 individuals showed moderate-to-severe opacification with an elevated Lund–Mackay Score (LMS) of 10.2 ± 4.4. Bilateral agenesis of frontal sinus (19%) and sphenoid sinus (9.5%) was a frequent finding in individuals aged 16 years or older. Subgroup analysis for predicted ultrastructural phenotypes did not identify differences in HrQoL, extent of sinus opacification, or frequency of aplastic paranasal sinuses.Conclusion: PCD is strongly associated with CRS. The high burden of disease is indicated by decreased HrQoL. Therefore, the upper airways of PCD individuals should be evaluated and managed by ear–nose–throat (ENT) specialists. Genetically determined PCD groups with predicted abnormal versus (near) normal ultrastructure did not differ in disease severity. Further studies are needed to gain evidence-based knowledge of the phenotype and management of upper airway manifestations in PCD. In addition, individuals with agenesis of the frontal and sphenoid paranasal sinuses and chronic respiratory symptoms should be considered for a diagnostic evaluation of PCD.

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Primary ciliary dyskinesia

Cited by 3 publications

References 157 publications

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Primäre Ciliäre Dyskinesie

Molecular defects in primary ciliary dyskinesia are associated with agenesis of the frontal and sphenoid paranasal sinuses and chronic rhinosinusitis

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