Causes and evaluation of bronchiectasis in children

Category	Specific examples	Key diagnostic clues (in addition to a general evaluation)*
Postinfectious conditions
Protracted bacterial bronchitis	Varied organisms Increased risk of bronchiectasis for recurrent infection (>3 episodes/year) and with Haemophilus influenzae	History of chronic wet cough Sputum culture Response to antibiotics
Specific pathogens	Mycobacterium tuberculosis Atypical mycobacteria Fungal infections Mycoplasma pneumoniae	History of exposures and characteristic symptoms Serology Sputum cultures
Severe, chronic, or recurrent bacterial pneumonia	Various organisms, including Staphylococcus aureus, Streptococcus pneumonia, Klebsiella, Pseudomonas aeruginosa, Bordetella pertussis	History of pneumonias Sputum cultures
Postinfectious bronchiolitis obliterans including unilateral hyperlucent lung (Swyer-James syndrome)	Any lower respiratory viral infections (but particularly adenovirus types 7 and 21), influenza, measles M. pneumoniae	History – Often chronic or recurrent cough and wheeze as well as localized inspiratory crackles Chest multidetector CT Previous viral studies (titers, PCR, culture) and serology
Bronchial narrowing/obstruction
Congenital abnormalities	Airway anomalies (eg, tracheomalacia, bronchomalacia, tracheal or bronchial stenosis, bronchogenic cyst, tracheal bronchus, vascular ring, pulmonary artery aneurysm or dilation) Bronchopulmonary sequestration (intralobar) CPAM (formerly known as CCAM)	CT scan with angiogram – To evaluate for sequestration, CPAM, vascular slings/rings, or pulmonary artery abnormalities Flexible bronchoscopy – To evaluate for bronchomalacia, ectopic bronchus, bronchial stenosis, or vascular compression
Foreign body aspiration	Any small objects (eg, nuts, candy, grass seeds)	History of choking episode even if remote, near-drowning event, and/or recurrent pneumonia Rigid (+/– flexible) bronchoscopy
Endobronchial obstruction	Mucus plug (postoperative, asthma, middle lobe syndrome) Allergic bronchopulmonary aspergillosis Bronchocentric granulomatosis Endobronchial tumors	Characteristic findings on chest imaging Serology for Aspergillus IgE Flexible bronchoscopy with BAL, and biopsy in case of bronchocentric granulomatosis
Hilar adenopathy	Tuberculosis Histoplasmosis Sarcoidosis Tumors	Chest imaging Serology Flexible bronchoscopy with cultures and biopsy if needed
External airway compression	Lung masses (eg, tumor, congenital malformations) Severe scoliosis Vascular compression	Chest imaging Flexible bronchoscopy
Immunodeficiencies
Immunoglobulin deficiencies	Agammaglobulinemia (MIM #300755) Hypogammaglobulinemia Specific globulinemia Specific antibody dysfunction Syndromic Common variable immunodeficiency	Quantitative immunoglobulins Immunoglobulin subclasses Humoral panel with antibody titers to childhood vaccines and pneumococcal vaccine^¶ Gene panel for primary immunodeficiency
Combined immunodeficiencies	Severe combined immunodeficiency (MIM #300400 and others) DiGeorge/velocardiofacial syndrome (MIM #188400, MIM #192430) Bare lymphocyte syndrome (T cell receptor defect caused by MHC deficiency; MIM #604571) CXCR4 gene mutation (WHIM syndrome, MIM #193670) CD40 deficiency or CD40 ligand deficiency (hypergammaglobulinemia M syndrome, MIM #606843, MIM #308230) Ataxia-telangiectasia (MIM #208900) Others	Quantitative immunoglobulins Specific antibody titers Evaluation of lymphocyte subsets (T, B, and NK) Assessment of T cell function Gene panel for primary immunodeficiency
Leukocyte dysfunction	Chronic granulomatous disease (NADPH oxidase dysfunction; MIM #306400, others) Leukocyte adhesion deficiency	DHR test Nitroblue tetrazolium test Genetic testing
Complement deficiency	C3 deficiency (MIM #613779), ficolin-3 deficiency (MIM #613860)	Complement assays (C3, C4, and THC) Gene panel for primary immunodeficiency
Acquired immunodeficiencies	Pharmacologic immunosuppression, HIV infection, malnutrition, malignancy, etc	History of recurrent infections Blood counts HIV testing Quantitative immunoglobulins
Primary impaired mucociliary clearance
Abnormal secretions	Cystic fibrosis CFTR-related disorder	Sweat chloride test Genetic testing
Ciliary dysfunction	Primary ciliary dyskinesia (known as Kartagener syndrome if situs inversus is present)	Nasal or bronchial ciliary biopsy with motility studies Electron microscopy Genetic testing Imaging to confirm situs inversus in Kartagener syndrome
Unknown mechanism	Young syndrome (obstructive azoospermia and sinopulmonary disease)	Sperm count
Miscellaneous disorders
Aspiration (recurrent, small volume)	Neurologic disorders Vocal cord paralysis Swallowing dysfunction Laryngeal clefts Tracheoesophageal fistula GERD (controversial)^¶	History of associated disorder or GERD^Δ Feeding evaluation Videofluoroscopic swallow study (modified barium swallow) Fiberoptic endoscopic evaluation of swallowing Direct laryngoscopy with probing for laryngeal cleft
Ineffective cough with impaired mucus clearance	Muscular dystrophies Other causes (eg, CNS abnormalities and/or muscle weakness)	Medical history and examination to detect muscle weakness (presents before respiratory dysfunction) Neurologic evaluation
Systemic autoimmune or inflammatory disorders, or interstitial lung disease	Systemic lupus erythematosus Rheumatoid arthritis Sjögren syndrome Scleroderma Dermatomyositis Relapsing polychondritis Sarcoidosis Inflammatory bowel disease Other causes of interstitial lung disease^◊	History, physical examination Rheumatologic evaluation Biopsy of affected tissues
Bronchiolitis obliterans	Post-transplant with chronic rejection (bone marrow, lung transplant) Interstitial lung disease^◊ Stevens-Johnson syndrome Other causes	History Organ transplant, history of or risk factors for interstitial lung disease^◊ (and distinguish from postinfectious bronchiolitis obliterans above) Chest multidetector CT
Environmental exposures (inhalation of toxic fumes and dusts)	Smoke, particulate matter Ammonia Nitrogen dioxide Other irritant gases Pneumoconioses (eg, silicate, talc, or coal dust) Lipoid substances	Exposure history
Genetic syndromes	Cartilage deficiency (Williams-Campbell syndrome, MIM 211450) Tracheobronchomegaly (Mounier-Kuhn syndrome) Marfan syndrome (MIM #154700) Yellow nail syndrome (MIM %153300) Autosomal dominant polycystic kidney disease (MIM #173900, MIM #613095) Alpha-1 antitrypsin deficiency (MIM #613490)^§ Syndromes associated with immune deficiency (refer to above)	Flexible bronchoscopy Physical examination Family history Possible genetic testing

CT: computed tomography; PCR: polymerase chain reaction; CPAM: congenital pulmonary airway malformation; CCAM: congenital cystic adenomatoid malformation; IgE: immunoglobulin E; BAL: bronchoalveolar lavage; MHC: major histocompatibility complex; WHIM: warts, hypogammaglobulinemia, infections, and myelokathexis; NK: natural killer; NADPH: nicotinamide adenine dinucleotide phosphate; DHR: dihydrorhodamine 123; THC: total hemolytic complement (CH50); HIV: human immunodeficiency virus; CFTR: cystic fibrosis transmembrane conductance regulator; GERD: gastroesophageal reflux disease; CNS: central nervous system; PFT: pulmonary function test.

* The general evaluation for bronchiectasis includes a focused history, PFTs (if the child is able), and chest imaging (typically chest radiograph and chest multidetector CT). These steps document bronchiectasis, assess its severity, and may help to identify the specific cause. Additional key diagnostic steps are noted for each category.

¶ If antibody titers are low, administer vaccines and repeat the titers to evaluate the response. Refer to UpToDate content on evaluation of children with recurrent infections.

Δ Although GERD is associated with a modest increase in bronchiectasis risk, its role as a primary cause in children without other risk factors is questionable. If GERD is strongly suspected, the evaluation may include esophageal pH and impedance monitoring and upper gastrointestinal endoscopy. Refer to UpToDate content on evaluation of GERD in children.

◊ Several types of diffuse/interstitial lung disease in children can be complicated by bronchiectasis (often traction bronchiectasis), with or without the histologic finding of bronchiolitis obliterans. Refer to UpToDate content on diffuse/interstitial lung disease in children.

§ Pulmonary manifestations of alpha-1 antitrypsin deficiency (emphysema and/or bronchiectasis) generally do not present until mid-adulthood.

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Causes and evaluation of bronchiectasis in children