Version May 2024
| To exclude more common causes of chronic respiratory symptoms:¶ |
| Sweat chloride testing |
| Evaluation for gastroesophageal reflux and recurrent aspiration (such as barium swallow, pH/impedance probe, and others)Δ |
| Bronchoscopy |
| Cultures and testing for infectious etiologies |
| Echocardiogram |
| Testing for HIV and other immunodeficiencies |
| To assess extent and severity of disease: |
| Radiographic studies: |
| Chest radiographs |
| Chest CT scan |
| Cardiac studies: |
| Electrocardiogram |
| Echocardiogram |
| Cardiac catheterization (in selected cases) |
| Pulmonary function studies: |
| Spirometry |
| Lung volumes by plethysmography |
| Diffusion |
| Pulse oximetry (resting, sleeping, and with exercise) |
| Arterial blood gasses (selected cases) |
| 6-minute walk test |
| Infant pulmonary function testing |
| Laboratory studies to identify systemic disorders predisposing to DLD: |
| Immune studies:◊ |
| HIV |
| Immunoglobulins |
| Response to immunizations |
| Lymphocyte subsets |
| Complement |
| Others as indicated |
| Tests to evaluate for connective tissue disease: |
| Antinuclear antibody – Initial step for autoimmune disease |
| Angiotensin-converting enzyme – For sarcoidosis |
| Antineutrophil cytoplasmic antibody – For vasculitis syndromes including granulomatosis with polyangiitis |
| Antiglomerular basement membrane antibody – For antiglomerular basement membrane disease |
| Others: |
| Hypersensitivity pneumonitis panel |
| Serum and urine amino acids – For lysosomal diseases and lysinuric protein intolerance |
| Genetic studies§[1] |
| Invasive studies: |
| Bronchoscopy – Evaluate for infection, aspiration, pulmonary hemorrhage¥, pulmonary alveolar proteinosis¥, Langerhans cell histiocytosis |
| Lung biopsy – For selected patients, if other tests have not established a cause of the DLD |
CT: computed tomography; DLD: diffuse lung disease; ILD: interstitial lung disease.
* Not all of these studies are needed. The choice of testing should be determined based on clinical context and urgency.
¶ Note that identification of one of these underlying disorders does not preclude a diagnosis of DLD. Consider further DLD evaluations if the respiratory symptoms persist or if the findings are out of proportion to comorbidities.
Δ It is important to recognize that gastroesophageal reflux may be a secondary finding in some children with DLD but may be the primary cause of symptoms in others. For a discussion of this evaluation, refer to the UpToDate topic review on aspiration and swallowing dysfunction in children.
◊ For a discussion of the evaluation for immunodeficiency/immune dysfunction, refer to UpToDate topic review on the approach to the child with recurrent infections.
§ Genetic testing depends on the patient's characteristics and may include genes involved in immune function, surfactant production and metabolism, lung development, or storage diseases (eg, Niemann-Pick disease). Testing is often performed using gene panels. For discussion of genetic testing, refer to UpToDate content on approach to DLD in children and this review[1].
¥ If pulmonary hemorrhage or pulmonary alveolar proteinosis is discovered at bronchoscopy, additional evaluation for the cause of these findings will be needed.Courtesy of Lisa R Young, MD.
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