title: Primary ciliary dyskinesia presentation in 60 children according to ciliary ultrastructure.
abstract: 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.
authors.affiliation: Centre de reference des maladies respiratoires rares, Service de pneumologie pediatrique, Hopital Armand-Trousseau and INSERM UMR S-938, AP-HP, 75571 Paris Cedex 12, France.
authors.forename: Christelle
authors.initials: C
authors.lastname: Vallet
authors.forename: Estelle
authors.initials: E
authors.lastname: Escudier
authors.forename: Françoise
authors.initials: F
authors.lastname: Roudot-Thoraval
authors.forename: Sylvain
authors.initials: S
authors.lastname: Blanchon
authors.forename: Brigitte
authors.initials: B
authors.lastname: Fauroux
authors.forename: Nicole
authors.initials: N
authors.lastname: Beydon
authors.forename: Michèle
authors.initials: M
authors.lastname: Boulé
authors.forename: Anne Marie
authors.initials: AM
authors.lastname: Vojtek
authors.forename: Serge
authors.initials: S
authors.lastname: Amselem
authors.forename: Annick
authors.initials: A
authors.lastname: Clément
authors.forename: Aline
authors.initials: A
authors.lastname: Tamalet
mesh_terms: D000293:Adolescent; D001987:Bronchiectasis / Q000209:etiology*; D002648:Child; D002675:Child, Preschool; D002923:Cilia / Q000473:pathology / Q000648:ultrastructure*; D004398:Dyneins / Q000648:ultrastructure*; D005260:Female; D006801:Humans; D007619:Kartagener Syndrome / Q000150:complications* / Q000473:pathology; D008297:Male; D008854:Microscopy, Electron; D012129:Respiratory Function Tests; D012141:Respiratory Tract Infections / Q000209:etiology*; D012189:Retrospective Studies; D013147:Spirometry; D018709:Statistics, Nonparametric; D014057:Tomography, X-Ray Computed
chemical_list: D004398:Dyneins