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Primary ciliary dyskinesia presentation in 60 children according to ciliary ultrastructure
- Source :
- European Journal of Pediatrics, European Journal of Pediatrics, 2013, 172 (8), pp.1053-1060. ⟨10.1007/s00431-013-1996-5⟩
- Publication Year :
- 2012
-
Abstract
- International audience; Primary ciliary dyskinesia (PCD) is an inherited disease related to ciliary dysfunction, with heterogeneity in clinical presentation and in ciliary ultrastructural defect. Our study intended to determine if there are phenotypic differences in patients with PCD based on ciliary ultrastructural abnormality. In this retrospective study carried out among 60 children with a definitive diagnosis of PCD, we analyzed clinical, radiological, and functional features at diagnosis and at last recorded visit, according to cilia defect (absence of dynein arms: DAD group, n = 36; abnormalities of the central complex: CCA group, n = 24). Onset of respiratory symptoms occurred later in the CCA than in the DAD group (9.5 versus 0.5 months, p = 0.03). Situs inversus was only observed in the DAD group, while respiratory disease in siblings were more frequent in the CCA group (p = 0.003). At diagnosis, clinical presentation was more severe in the CCA group: frequency of respiratory tract infections (p = 0.008), rhinosinusitis (p = 0.02), otitis complications (p = 0.0001), bilateral bronchiectasis (p = 0.04), and number of hypoxemic patients (p = 0.03). Pulmonary function remained stable in both groups, but outcome was better in the CCA than in the DAD group: less antibiotic therapy and hypoxemic patients (p = 0.004). In conclusion, our results underlined the relationship between the severity of clinical presentation and the ultrastructural ciliary defect.
- Subjects :
- Male
medicine.medical_specialty
Pathology
Adolescent
[SDV]Life Sciences [q-bio]
[SDV.GEN] Life Sciences [q-bio]/Genetics
Gastroenterology
[SDV.MHEP.PSR]Life Sciences [q-bio]/Human health and pathology/Pulmonology and respiratory tract
Statistics, Nonparametric
Pulmonary function testing
Internal medicine
medicine
Electron microscopy
Humans
Cilia
Child
Respiratory Tract Infections
Primary ciliary dyskinesia
Retrospective Studies
Ciliary beat frequency Dynein Electron microscopy Kartagener syndrome Pulmonary function test
[SDV.GEN]Life Sciences [q-bio]/Genetics
Respiratory tract infections
business.industry
Kartagener Syndrome
Cilium
Respiratory disease
Ciliary beat frequency
Dynein
Pulmonary function test
Dyneins
medicine.disease
Bronchiectasis
Respiratory Function Tests
[SDV] Life Sciences [q-bio]
Situs inversus
Microscopy, Electron
Otitis
Spirometry
Child, Preschool
Pediatrics, Perinatology and Child Health
[SDV.MHEP.PSR] Life Sciences [q-bio]/Human health and pathology/Pulmonology and respiratory tract
Female
medicine.symptom
business
Tomography, X-Ray Computed
Subjects
Details
- ISSN :
- 14321076 and 03406199
- Volume :
- 172
- Issue :
- 8
- Database :
- OpenAIRE
- Journal :
- European journal of pediatrics
- Accession number :
- edsair.doi.dedup.....41f1a5bdc8ef8d8fb3b2edbd057ecccf
- Full Text :
- https://doi.org/10.1007/s00431-013-1996-5⟩