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Steps in Diagnosis

Because there are many forms of chILD, there is not one specific test that is used for diagnosis. Before giving a diagnosis of chILD, doctors should rule out other possible causes of the symptoms. Such conditions include: Cystic fibrosis, Primary Ciliary Dyskinesia, Asthma, Acid reflux, Aspiration, Cardiac (heart) disease, Neuromuscular disease, and Immune deficiency.

Common tests in the diagnostic process include:

  • Imaging Studies
    • Chest x-rays and Computed Tomography (CT) to get images of the lungs
    • Barium Swallow to look for signs of aspiration while swallowing food and liquids of different consistencies
    • Echocardiography to look at the structure and function of the heart
  • Blood Gasses
    To measure the levels of oxygen and carbon dioxide in the blood
  • Pulse Oximetry
    To estimate how well the hemoglobin is carrying oxygen
  • Sweat Testing
    Gold standard test to diagnose cystic fibrosis
  • Skin Testing
    For tuberculosis or for allergy testing
  • Other blood tests
    To look for issues with the immune system or inflammation

Other Laboratory Tests are often performed to help with the diagnosis and to test the extent of the lung disease. These can include:

  • Bronchoscopy with or without washings called bronchoalveolar lavage (BAL)
    To look at airway anatomy, look for evidence of airway/lung infection, inflammation, or bleeding.
  • Exercise Testing
    To further define respiratory limitation and gas exchange during exercise
  • Genetic Tests
    Only some of the chILD diseases have known genetic causes. Tests on blood and other samples to look for known genetic disorders or to discover newly associated genes.
  • Pulmonary Function Tests (PFTs)
    PFTs measure how well the lungs work. There are many types of tests. Some centers can do infant PFTs. These require sedation and are only done in certain centers. By 4 to 6 years old, many kids can do regular PFTs which do not require sedation, are available at most centers, and can be very useful to monitor current lung function and progression of disease.
  • Lung Biopsy
    Right now, this is the “gold standard” test used to diagnose and type many forms of chILD. An experienced pathologist can learn a lot about the health of the lung tissue and identify many of the chILD disorders from the lung biopsy. However, a biopsy does not yield a diagnosis 100 percent of the time! The location of the biopsy, proper handling of the sample, and the experience of the surgeon and pathologist are all vital to a successful biopsy. We recommend that you have biopsies performed at experienced chILD centers whenever possible

Consultation with other pediatric subspecialists is often needed