Content categories of the standardised pulmonary ciliary dyskinesia (PCD) follow-up form (FOLLOW-PCD version 1.0) and degree of agreement of the working group members for their inclusion

Module and content categoryMain included componentsDegree of group agreement# %
Module 1
 Demographic informationDate of birth, sex, ethnicity98–100
 Diagnostic statusCurrent diagnosis and date, other ciliopathies93–95
 Diagnostic tests performed  and results
  • nNO measurement: date, result, information on equipment and manoeuvre

  • EM: date, sample quality, EM phenotype and % of affected cilia, ciliary culture

  • HSVM: date, sample quality, beat frequency, beat pattern, ciliary culture

  • Genetic analysis: date, technique, genes tested, result, variant nomenclature used

  • Immunofluorescence: date, absent proteins, positive proteins

 Differential diagnosis
  • Immunodeficiency (dates and results of test performed)

  • Cystic fibrosis (dates and results of test performed)

 Baseline medical history
  • Detailed history of neonatal period (symptoms, management, gestational age, birth weight, information on breastfeeding)

  • Laterality defects (laterality status and cardiovascular malformations, tests and dates of diagnosis)

  • Fertility problems (test performed, date and result, number of own children)

  • Retinitis pigmentosa (date of diagnosis)

  • Hydrocephalus (test performed, date and result)

  • Kidney problems (problem description, date of diagnosis)

  • Gastrointestinal problems (problem description, test performed, date of diagnosis)

  • Upper and lower respiratory symptoms (overview of selected characteristics from the past history, e.g. age of symptom onset, bronchiectasis location and age of diagnosis, pathogens and duration of chronic upper or lower respiratory colonisation, level of hearing impairment and date of evaluation)

  • Previous surgical interventions related to PCD

  • Other PCD-related problems

 Non-PCD-related  comorbiditiesInformation on atopic diseases, e.g. asthma, hay fever, atopic dermatitis, tests performed and results, medication allergies80–93
 Family historyConsanguinity, PCD in the family, family history of other relevant manifestations98–100
Module 2
 Vital signsRespiratory rate, SpO293–95
 Clinical examinatione.g. signs of dyspnoea, clubbing95–100
 Lung auscultationPathological sounds and location93–95
 Heart auscultationDescription of pathological findings80–93
Module 3
 Examination of the noseDischarge and aspect, mucosa, polyps, other findings80–95
 Examination of the sinusesFacial pain/sensitivity93–95
 Examination of the earsDischarge and aspect, otoscopy, audiometry and tympanometry findings95–100
Module 4
 Growth measurementsHeight, weight, date of measurement98–100
 Lung function
  • Spirometry (date and several indices)

  • Plethysmography (date and several indices)

  • Lung diffusion testing (date and DLCO result)

  • Inert gas washout measurements (date, type of test, type of gas and concertation, number of trials, several indices)

  • Exhaled breath analyses (date and FeNO result)

  • Information on bronchodilation testing (pre- and post-results)

  • Information on quality of test performed and references used

 Imaging (date and findings)
  • Chest radiography (date, findings, e.g. atelectasis, infiltrations, bronchial thickening)

  • Chest CT (date, findings, e.g bronchiectasis, atelectasis, infiltrations, lobar collapse, mucus plugging, location of bronchiectasis, Brody II score)

  • Lung MRI (date, findings, e.g bronchiectasis, atelectasis, infiltrations, lobar collapse, mucus plugging, location of bronchiectasis)

  • Sinus radiography (date and findings)

  • Sinus CT (date, findings and location: aplasia, hypoplasia, bone thickening, Lund–Mackay score)

 MicrobiologyDate of culture, type of sample, isolated pathogens, antibiotic resistance95–100
Module 5
 Hospitalisations and surgeriesReason for hospitalisation and numbers of hospitalisation days93–95
  • Antibiotics for acute infection (diagnosis, antibiotic class, route, length of treatment)

  • Prophylactic antibiotics (antibiotic class, route, dosage, start date)

  • Oxygen supplementation/ventilation (type and frequency of ventilation)

  • Other prescribed medication (e.g. bronchodilators, corticosteroids)

  • Relevant vaccinations (type and date of flu and pneumococcal vaccine)

  • Upper airways management (type and frequency of intervention)

  • Lower airways management (type and frequency of interventions performed routinely and during exacerbations, nebulisation of lower airways, routine visits to professional physiotherapist)

  • Compliance to treatment

  • Exercise recommendations

Module 6
 Symptoms from the upper airways and earsDescription, severity and periodicity:
  • chronic nose symptoms

  • headaches

  • ear symptoms

  • snoring

 Symptoms from the lower airwayDescription, severity and periodicity:
  • cough

  • sputum production

  • wheezing

  • shortness of breath

  • chest pain

 General symptomse.g. fever93–95
Module 7
 Daily activitiesInformation on working status, days off work/school because of PCD, sports80–95
 SmokingActive, passive, type and frequency93–95
 NutritionAppetite, dietary supplements85–93
 EnvironmentInformation on neighbourhood traffic, condensation/mould in the house80–85

nNO: nasal nitric oxide; EM: electron microscopy; HSVM: high-speed video microscopy; SpO2: oxygen saturation measured by pulse oximetry; DLCO: diffusing capacity of the lung for carbon monoxide; FeNO: exhaled nitric oxide fraction; CT: computed tomography; MRI: magnetic resonance imaging. #: range of degree of agreement for the different components of the content category.