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

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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]

Afiliação do(s) autor(es)

^[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

• Tipo de documento: Artigo Científico
• Fonte: SCIENTIFIC REPORTS; v. 9, JUN 18 2019.
• Citações Web of Science: 0

Resumo

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)

• Processo FAPESP: 14/18049-9 - Prevalência de discinesia ciliar primária em pacientes adultos com bronquiectasia de causa desconhecida
• Beneficiário: Thais Mauad
• Modalidade de apoio: Auxílio à Pesquisa - Regular
• Processo FAPESP: 15/12183-8 - Identificação das mutações prevalentes e caracterização clínica e funcional de crianças e adultos com discinesia ciliar primária
• Beneficiário: Jose Dirceu Ribeiro
• Modalidade de apoio: Auxílio à Pesquisa - Regular
• Processo FAPESP: 15/12858-5 - Identificação das mutações prevalentes e caracterização clínica e funcional de crianças e adultos com discinesia ciliar primária
• Beneficiário: Fernando Augusto de Lima Marson
• Modalidade de apoio: Bolsas no Brasil - Pós-Doutorado