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https://observatorio.fm.usp.br/handle/OPI/33085
Title: | Severe pulmonary disease in an adult primary ciliary dyskinesia population in Brazil |
Authors: | OLM, Mary Anne Kowal; MARSON, Fernando Augusto Lima; ATHANAZIO, Rodrigo Abensur; NAKAGAWA, Naomi Kondo; MACCHIONE, Mariangela; LOGES, Niki Tomas; OMRAN, Heymut; RACHED, Samia Zahi; BERTUZZO, Carmen Silvia; STELMACH, Rafael; SALDIVA, Paulo Hilario Nascimento; RIBEIRO, Jose Dirceu; JONES, Marcus Herbert; MAUAD, Thais |
Citation: | SCIENTIFIC REPORTS, v.9, article ID 8693, 11p, 2019 |
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. |
Appears in Collections: | Artigos e Materiais de Revistas Científicas - FM/MFT Artigos e Materiais de Revistas Científicas - FM/MPT Artigos e Materiais de Revistas Científicas - HC/InCor Artigos e Materiais de Revistas Científicas - LIM/05 Artigos e Materiais de Revistas Científicas - LIM/09 Artigos e Materiais de Revistas Científicas - LIM/54 |
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art_OLM_Severe_pulmonary_disease_in_an_adult_primary_ciliary_2019.PDF | publishedVersion (English) | 1.5 MB | Adobe PDF | View/Open |
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