Condition | Clinical features | Investigations | |
---|---|---|---|
Performed in all patients | Immunodeficiency | Recurrent infections (pulmonary and extra-pulmonary) | Serum immunoglobulins (IgG, IgA and IgM) Serum protein electrophoresis HIV Pneumococcal antibody levels |
Allergic bronchopulmonary aspergillosis (ABPA) | Pre-existing diagnosis of asthma, wheeze, proximal bronchiectasis, sputum plugs | Serum total IgE Specific IgE and IgG to Aspergillus fumigatus Peripheral blood eosinophils | |
Bacterial infection / pulmonary tuberculosis (TB) / non-tuberculous mycobacterial (NTM) pulmonary disease | Non-specific respiratory symptoms (cough, sputum production, haemoptysis, night sweats, weight loss, pyrexia and fatigue) | Routine sputum culture Mycobacterial sputum culture (×3) | |
Performed in patients with specific clinical phenotypes | Cystic fibrosis | Early onset, family history, male infertility, malabsorption, pancreatitis | Sodium chloride sweat test CFTR mutation analysis |
Primary ciliary dyskinesia | Neonatal distress, family history, recurrent otitis media, rhinosinusitis, infertility and symptoms since childhood | Nasal nitric oxide Tests assessing ciliary structure and function Genetics | |
Rheumatoid arthritis, ankylosing spondylitis, Sjögren's syndrome and systemic lupus erythematosus | Clinical features consistent with connective tissue disease, arthritis or vasculitis | Rheumatoid factor Anti-cyclic citrullinated peptide Antinuclear antibodies Anti-neutrophil cytoplasmic antibodies | |
Alpha-1 antitrypsin deficiency | Basal pan-acinar emphysema | Alpha-1 antitrypsin |
CFTR = cystic fibrosis transmembrane conductance regulator.