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(Reference retrieved automatically from Web of Science through information on FAPESP grant and its corresponding number as mentioned in the publication by the authors.)

Severe pulmonary disease in an adult primary ciliary dyskinesia population in Brazil

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Author(s):
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Kowal Olm, Mary Anne [1] ; Lima Marson, Fernando Augusto [2] ; Athanazio, Rodrigo Abensur [3] ; Nakagawa, Naomi Kondo [1] ; Macchione, Mariangela [1] ; Loges, Niki Tomas [4] ; Omran, Heymut [4] ; Rached, Samia Zahi [3] ; Bertuzzo, Carmen Silvia [2] ; Stelmach, Rafael [3] ; Nascimento Saldiva, Paulo Hilario [1] ; Ribeiro, Jose Dirceu [5, 2] ; Jones, Marcus Herbert [6] ; Mauad, Thais [1]
Total Authors: 14
Affiliation:
[1] Univ Sao Paulo, Sch Med, Dept Pathol, BR-01246903 Sao Paulo, SP - Brazil
[2] Univ Estadual Campinas, Dept Med Genet & Genom Med, Fac Med Sci, BR-13083887 Campinas, SP - Brazil
[3] Univ Sao Paulo, Div Pulm, Heart Inst InCor, Hosp Clin, Fac Med, BR-05403000 Sao Paulo, SP - Brazil
[4] Muenster Univ Hosp, Dept Pediat & Gen Pediat, D-48149 Munster - Germany
[5] Univ Estadual Campinas, Fac Med Sci, Dept Pediat, BR-13083887 Campinas, SP - Brazil
[6] Pontificia Univ Catolica Rio Grande do Sul, Dept Pediat, BR-90610000 Porto Alegre, RS - Brazil
Total Affiliations: 6
Document type: Journal article
Source: SCIENTIFIC REPORTS; v. 9, JUN 18 2019.
Web of Science Citations: 0
Abstract

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; FEV1 <= 50% in 25/49 patients, eight patients had undergone lung transplantation, four had been lobectomized and cPA+ was determined in 20/49. The EBC and MR were altered in all patients. This adult PCD population was characterized by consanguinity, severe lung impairment, genetic variability, altered EBC and MR. (AU)

FAPESP's process: 14/18049-9 - Prevalence of primary ciliary dyskinesia in adult patients with bronchiectasis of unknown cause
Grantee:Thais Mauad
Support type: Regular Research Grants
FAPESP's process: 15/12183-8 - Identification of prevalent mutations and clinical and functional characterization of children and adults with primary ciliary dyskinesia
Grantee:Jose Dirceu Ribeiro
Support type: Regular Research Grants
FAPESP's process: 15/12858-5 - Identification of prevalent mutations and clinical and functional characterization of children and adults with primary ciliary dyskinesia
Grantee:Fernando Augusto de Lima Marson
Support type: Scholarships in Brazil - Post-Doctorate