Severe pulmonary disease in an adult primary ciliary dyskinesia population in Brazil.
Adult
Aged
Brazil
/ epidemiology
Comorbidity
Cross-Sectional Studies
Female
Genetic Testing
Humans
Kartagener Syndrome
/ diagnosis
Lung Diseases
/ diagnosis
Male
Middle Aged
Prevalence
Pseudomonas Infections
/ diagnosis
Pseudomonas aeruginosa
/ isolation & purification
Severity of Illness Index
Young Adult
Journal
Scientific reports
ISSN: 2045-2322
Titre abrégé: Sci Rep
Pays: England
ID NLM: 101563288
Informations de publication
Date de publication:
18 06 2019
18 06 2019
Historique:
received:
23
01
2019
accepted:
28
05
2019
entrez:
20
6
2019
pubmed:
20
6
2019
medline:
27
10
2020
Statut:
epublish
Résumé
Primary Ciliary Dyskinesia (PCD) is underdiagnosed in Brazil. We enrolled patients from an adult service of Bronchiectasis over a two-year period in a cross-sectional study. The inclusion criteria were laterality disorders (LD), cough with recurrent infections and the exclusion of other causes of bronchiectasis. Patients underwent at least two of the following tests: nasal nitric oxide, ciliary movement and analysis of ciliary immunofluorescence, and genetic tests (31 PCD genes + CFTR gene). The clinical characterization included the PICADAR and bronchiectasis scores, pulmonary function, chronic Pseudomonas aeruginosa (cPA) colonization, exhaled breath condensate (EBC) and mucus rheology (MR). Forty-nine of the 500 patients were diagnosed with definite (42/49), probable (5/49), and clinical (2/49) PCD. Twenty-four patients (24/47) presented bi-allelic pathogenic variants in a total of 31 screened PCD genes. A PICADAR score > 5 was found in 37/49 patients, consanguinity in 27/49, LD in 28/49, and eight PCD sibling groups. FACED diagnosed 23/49 patients with moderate or severe bronchiectasis; FEV
Identifiants
pubmed: 31213628
doi: 10.1038/s41598-019-45017-1
pii: 10.1038/s41598-019-45017-1
pmc: PMC6582273
doi:
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
8693Références
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