{
  "abstract": "Introduction Primary ciliary dyskinesia (PCD) is an underdiagnosed orphan lung disease. Late diagnosis results in poor respiratory outcomes. Understanding the local population is essential to guide diagnosis and treatment. We describe clinical characteristics of an adult and paediatric population with PCD.Methods Retrospective observational study, clinical and radiological data, pulmonary function and results of other diagnostic testing were collected from patient electronic records.Results In total 37 patients were identified [17 paediatric:20 adult]. Age range 4 to 37 years; 19/37 (51%) patients were female. Mean age at diagnosis was 10 in the adult cohort and 3.7 years in the paediatric patients. 43% had situs inversus and 46% had hearing loss. 73% had cilial analysis performed. Of those tested 74% Class 1 defect; 22% had a Class 2 defect. Genetic testing was performed [in all but one]; 65% having a pathogenic variant identified. In adults, median FEV1% in patients with mucus plugging on CT was 63% (IQR 36% to 69%) versus 69% (IQR 65.5% to 105%) in those with no mucus plugging (p=0.045). Median FEV1% in adults with inflammatory nodules was 63% (IQR 39% to 69%)] versus 85% (IQR 66% to 106%) in those without (p=0.011). Positive microbiology and lower lung function was also more likely in adults with CT changes compared to adults with no mucus plugging or inflammatory nodules. Median FEV1% in adults with Pseudomonas aeruginosa 42% (IQR 26% to 52%) and children with Pseudomonas aeruginosa 79% (IQR 66% to 93%) was significantly lower than patients culturing other organisms, FEV1% was 67% (IQR 50% to 70%, p=0.034) in adults and 89% (IQR 77% to 97%, p=0.012) in children.Conclusion The implementation of an early diagnostic pathway in paediatrics has resulted in patients being identified around 6 years earlier compared to a historical adult cohort, highlighting the need for investment in a robust diagnostic process. Lung function was low from a young age and lower in those with active infection and inflammatory changes on CT. These findings suggest that age of diagnosis is improving and that a delay in diagnosis and treatment results in significant lung function decline and respiratory morbidity.",
  "authors": [
    {
      "affiliations": [
        "Royal Hospital for Children Glasgow, Glasgow, UK"
      ],
      "name": "J Poole-Cowley"
    },
    {
      "affiliations": [
        "Queen Elizabeth University Hospital Glasgow, Glasgow, UK"
      ],
      "name": "E Johnson"
    },
    {
      "affiliations": [
        "Royal Hospital for Children Glasgow, Glasgow, UK"
      ],
      "name": "M Beaton"
    },
    {
      "affiliations": [
        "Royal Hospital for Children Glasgow, Glasgow, UK"
      ],
      "name": "A Devenny"
    },
    {
      "affiliations": [
        "Royal Hospital for Children Glasgow, Glasgow, UK"
      ],
      "name": "L McElroy"
    },
    {
      "affiliations": [
        "Queen Elizabeth University Hospital Glasgow, Glasgow, UK"
      ],
      "name": "E Ross"
    },
    {
      "affiliations": [
        "Royal Hospital for Children Glasgow, Glasgow, UK"
      ],
      "name": "R Langley"
    }
  ],
  "title": "P136 Clinical characteristics of a combined adult and paediatric cohort of patients with primary ciliary dyskinesia",
  "uid": "5b7f47d0-8a4a-51e8-948d-729e88786202"
}