Severe pulmonary disease in an adult primary ciliary dyskinesia population in Brazil
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Citações na Scopus
11
Tipo de produção
article
Data de publicação
2019
Título da Revista
ISSN da Revista
Título do Volume
Editora
NATURE PUBLISHING GROUP
Autores
MARSON, Fernando Augusto Lima
LOGES, Niki Tomas
OMRAN, Heymut
BERTUZZO, Carmen Silvia
Citação
SCIENTIFIC REPORTS, v.9, article ID 8693, 11p, 2019
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.
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Referências
- Abitbul R, 2016, RESP MED, V119, P41, DOI 10.1016/j.rmed.2016.08.015
- Athanazio R, 2017, BMC PULM MED, V17, DOI 10.1186/s12890-017-0417-3
- Behan L, 2016, EUR RESPIR J, V47, P1103, DOI 10.1183/13993003.01551-2015
- Bikov A, 2016, CURR TOP MED CHEM, V16, P1550, DOI 10.2174/1568026616666150930120421
- Bukowy-Bieryllo Z, 2013, PEDIATR PULM, V48, P352, DOI 10.1002/ppul.22632
- Carlen B, 2005, ULTRASTRUCT PATHOL, V29, P217, DOI 10.1080/01913120590951220
- Chilvers MA, 2003, J ALLERGY CLIN IMMUN, V112, P518, DOI 10.1067/mai.2003.1701
- Contarini M, 2018, MULTIDISCIP RESP MED, V13, DOI 10.1186/s40248-018-0143-6
- Dalrymple R. A., 2018, ARCH DIS CHILD ED PR
- Davis MD, 2012, IMMUNOL ALLERGY CLIN, V32, P377, DOI 10.1016/j.iac.2012.06.003
- Davis SD, 2015, AM J RESP CRIT CARE, V191, P316, DOI 10.1164/rccm.201409-1672OC
- de Pereira C. A., 2012, J BRAS PNEUMOL, V40, P397
- Goto DM, 2010, RESP PHYSIOL NEUROBI, V170, P246, DOI 10.1016/j.resp.2010.01.013
- Goutaki M, 2017, EUR RESPIR J, V49, DOI 10.1183/13993003.01181-2016
- Goutaki M, 2016, EUR RESPIR J, V48, P1081, DOI 10.1183/13993003.00736-2016
- Haarman EG, 2016, EUR RESPIR J, V47, P699, DOI 10.1183/13993003.01914-2015
- Halbeisen FS, 2018, EUR RESPIR J, V52, DOI 10.1183/13993003.01040-2018
- Harris A, 2014, BMC PULM MED, V14, DOI 10.1186/1471-2466-14-18
- Horani A, 2016, PAEDIATR RESPIR REV, V18, P18, DOI 10.1016/j.prrv.2015.09.001
- Knowles MR, 2017, AM J RESP CRIT CARE, V196, P9, DOI 10.1164/rccm.201702-0426ED
- Knowles MR, 2013, AM J RESP CRIT CARE, V188, P913, DOI 10.1164/rccm.201301-0059CI
- Kuehni CE, 2010, EUR RESPIR J, V36, P1248, DOI 10.1183/09031936.00001010
- Kuehni CE, 2017, BREATHE, V13, P166, DOI 10.1183/20734735.008517
- Lucas JS, 2017, EUR RESPIR J, V49, P1
- Maglione M, 2014, PEDIATR PULM, V49, P1243, DOI 10.1002/ppul.22984
- Marthin JK, 2013, PLOS ONE, V8, DOI 10.1371/journal.pone.0057262
- Mitchison HM, 2017, J PATHOL, V241, P294, DOI 10.1002/path.4843
- Montella S, 2011, EUR J CLIN INVEST, V41, P1063, DOI 10.1111/j.1365-2362.2011.02501.x
- Moore A, 2006, J MED GENET, V43, P326, DOI 10.1136/jmg.2005.034868
- Noone PG, 2004, AM J RESP CRIT CARE, V169, P459, DOI 10.1164/rccm.200303-365OC
- Olm MAK, 2011, J APPL PHYSIOL, V111, P295, DOI 10.1152/japplphysiol.00629.2010
- Raidt J, 2014, EUR RESPIR J, V44, P1579, DOI 10.1183/09031936.00052014
- Roomans GM, 2006, UPSALA J MED SCI, V111, P155, DOI 10.3109/2000-1967-010
- Rumman N, 2017, EUR RESPIR REV, V26, DOI 10.1183/16000617.0058-2016
- RUTLAND J, 1982, J CLIN PATHOL, V35, P357, DOI 10.1136/jcp.35.3.357
- Saglani S, 2018, EUR RESPIR J, V52, DOI 10.1183/13993003.01365-2018
- Shapiro AJ, 2018, AM J RESP CRIT CARE, V197, pE24, DOI 10.1164/rccm.201805-0819ST
- Shapiro AJ, 2016, PEDIATR PULM, V51, P115, DOI 10.1002/ppul.23304
- Shoemark A, 2007, RESP MED, V101, P1163, DOI 10.1016/j.rmed.2006.11.008
- Shoemark A, 2012, J CLIN PATHOL, V65, P267, DOI 10.1136/jclinpath-2011-200415
- Shoemark A., 2017, AM J RESP CRIT CARE
- Vaughan J, 2003, EUR RESPIR J, V22, P889, DOI 10.1183/09031936.03.00038803
- Werner C, 2016, EUR RESPIR J, V47, P849, DOI 10.1183/13993003.00776-2015
- Werner Claudius, 2015, Cilia, V4, P2, DOI 10.1186/s13630-014-0011-8
Coleções
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
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