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

Imagem de Miniatura
Arquivos
art_OLM_Severe_pulmonary_disease_in_an_adult_primary_ciliary_2019.PDF (1.46 MB)
Citações na Scopus
11
Tipo de produção
article
Data de publicação
2019
DOI
Scopus
Web of Science
PubMed
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
Projetos de Pesquisa
Unidades Organizacionais
Fascículo
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.
Palavras-chave
URI
https://observatorio.fm.usp.br/handle/OPI/33085
Referências
  1. Abitbul R, 2016, RESP MED, V119, P41, DOI 10.1016/j.rmed.2016.08.015
  2. Athanazio R, 2017, BMC PULM MED, V17, DOI 10.1186/s12890-017-0417-3
  3. Behan L, 2016, EUR RESPIR J, V47, P1103, DOI 10.1183/13993003.01551-2015
  4. Bikov A, 2016, CURR TOP MED CHEM, V16, P1550, DOI 10.2174/1568026616666150930120421
  5. Bukowy-Bieryllo Z, 2013, PEDIATR PULM, V48, P352, DOI 10.1002/ppul.22632
  6. Carlen B, 2005, ULTRASTRUCT PATHOL, V29, P217, DOI 10.1080/01913120590951220
  7. Chilvers MA, 2003, J ALLERGY CLIN IMMUN, V112, P518, DOI 10.1067/mai.2003.1701
  8. Contarini M, 2018, MULTIDISCIP RESP MED, V13, DOI 10.1186/s40248-018-0143-6
  9. Dalrymple R. A., 2018, ARCH DIS CHILD ED PR
  10. Davis MD, 2012, IMMUNOL ALLERGY CLIN, V32, P377, DOI 10.1016/j.iac.2012.06.003
  11. Davis SD, 2015, AM J RESP CRIT CARE, V191, P316, DOI 10.1164/rccm.201409-1672OC
  12. de Pereira C. A., 2012, J BRAS PNEUMOL, V40, P397
  13. Goto DM, 2010, RESP PHYSIOL NEUROBI, V170, P246, DOI 10.1016/j.resp.2010.01.013
  14. Goutaki M, 2017, EUR RESPIR J, V49, DOI 10.1183/13993003.01181-2016
  15. Goutaki M, 2016, EUR RESPIR J, V48, P1081, DOI 10.1183/13993003.00736-2016
  16. Haarman EG, 2016, EUR RESPIR J, V47, P699, DOI 10.1183/13993003.01914-2015
  17. Halbeisen FS, 2018, EUR RESPIR J, V52, DOI 10.1183/13993003.01040-2018
  18. Harris A, 2014, BMC PULM MED, V14, DOI 10.1186/1471-2466-14-18
  19. Horani A, 2016, PAEDIATR RESPIR REV, V18, P18, DOI 10.1016/j.prrv.2015.09.001
  20. Knowles MR, 2017, AM J RESP CRIT CARE, V196, P9, DOI 10.1164/rccm.201702-0426ED
  21. Knowles MR, 2013, AM J RESP CRIT CARE, V188, P913, DOI 10.1164/rccm.201301-0059CI
  22. Kuehni CE, 2010, EUR RESPIR J, V36, P1248, DOI 10.1183/09031936.00001010
  23. Kuehni CE, 2017, BREATHE, V13, P166, DOI 10.1183/20734735.008517
  24. Lucas JS, 2017, EUR RESPIR J, V49, P1
  25. Maglione M, 2014, PEDIATR PULM, V49, P1243, DOI 10.1002/ppul.22984
  26. Marthin JK, 2013, PLOS ONE, V8, DOI 10.1371/journal.pone.0057262
  27. Mitchison HM, 2017, J PATHOL, V241, P294, DOI 10.1002/path.4843
  28. Montella S, 2011, EUR J CLIN INVEST, V41, P1063, DOI 10.1111/j.1365-2362.2011.02501.x
  29. Moore A, 2006, J MED GENET, V43, P326, DOI 10.1136/jmg.2005.034868
  30. Noone PG, 2004, AM J RESP CRIT CARE, V169, P459, DOI 10.1164/rccm.200303-365OC
  31. Olm MAK, 2011, J APPL PHYSIOL, V111, P295, DOI 10.1152/japplphysiol.00629.2010
  32. Raidt J, 2014, EUR RESPIR J, V44, P1579, DOI 10.1183/09031936.00052014
  33. Roomans GM, 2006, UPSALA J MED SCI, V111, P155, DOI 10.3109/2000-1967-010
  34. Rumman N, 2017, EUR RESPIR REV, V26, DOI 10.1183/16000617.0058-2016
  35. RUTLAND J, 1982, J CLIN PATHOL, V35, P357, DOI 10.1136/jcp.35.3.357
  36. Saglani S, 2018, EUR RESPIR J, V52, DOI 10.1183/13993003.01365-2018
  37. Shapiro AJ, 2018, AM J RESP CRIT CARE, V197, pE24, DOI 10.1164/rccm.201805-0819ST
  38. Shapiro AJ, 2016, PEDIATR PULM, V51, P115, DOI 10.1002/ppul.23304
  39. Shoemark A, 2007, RESP MED, V101, P1163, DOI 10.1016/j.rmed.2006.11.008
  40. Shoemark A, 2012, J CLIN PATHOL, V65, P267, DOI 10.1136/jclinpath-2011-200415
  41. Shoemark A., 2017, AM J RESP CRIT CARE
  42. Vaughan J, 2003, EUR RESPIR J, V22, P889, DOI 10.1183/09031936.03.00038803
  43. Werner C, 2016, EUR RESPIR J, V47, P849, DOI 10.1183/13993003.00776-2015
  44. 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