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

Sci Rep. 2019 Jun 18;9(1):8693. doi: 10.1038/s41598-019-45017-1.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Brazil / epidemiology
  • Comorbidity
  • Cross-Sectional Studies
  • Female
  • Genetic Testing
  • Humans
  • Kartagener Syndrome / diagnosis*
  • Kartagener Syndrome / epidemiology
  • Kartagener Syndrome / genetics
  • Lung Diseases / diagnosis*
  • Lung Diseases / epidemiology
  • Lung Diseases / genetics
  • Male
  • Middle Aged
  • Prevalence
  • Pseudomonas Infections / diagnosis*
  • Pseudomonas Infections / epidemiology
  • Pseudomonas Infections / microbiology
  • Pseudomonas aeruginosa / isolation & purification
  • Pseudomonas aeruginosa / physiology
  • Severity of Illness Index
  • Young Adult