Children’s Interstitial and Diffuse Lung Disease
Children’s Interstitial Lung Disease (chILD) is not a single disease. Instead, it is a group of rare lung diseases found in infants, children, and adolescents. There are different types of chILD that vary in their severity and in their long-term outcomes. In simplest terms, all types of chILD decrease a child’s ability to supply oxygen to their body. Early diagnosis and treatment is important for any form of chILD. If you suspect your child has chILD, consult a pediatric pulmonologist with expertise in chILD.
What are the symptoms of chILD?
Because there are so many forms of chILD, your child may have all or some of the following possible symptoms:
- Fast breathing
- Use of “helper” muscles while breathing (The child’s ribs or neck muscles may stand out while breathing in, showing he or she is working harder to get air into the lungs.)
- Abnormal chest X-rays or CT scans
- Needs supplemental oxygen
- Failure to gain weight and/or height (also known as failure to thrive)
- Persistent crackles, wheezing or other abnormal sounds when listening to the lungs
- Recurrent pneumonia
- Recurrent bronchitis
- Recurrent cough
Children with enough of these symptoms should have further tests to determine if they have chILD, as well as the specific form of chILD. The best way to do this is to work closely with pulmonary doctors. Often, the definitive diagnosis may depend on a lung biopsy to examine the actual lung tissue.
Is there one test to diagnose chILD?
Because of the numerous forms of chILD, there is not one specific test. Before giving a diagnosis of chILD, doctors should rule out other possible causes of the symptoms. Such conditions include: Cystic fibrosis, Asthma, Acid reflux, Cardiac (heart) disease, Aspiration, Scoliosis, Chest wall abnormalities, Neuromuscular disease, and Immune deficiency.
Common tests in the diagnostic process include:
- Imaging Studies:
- Chest x-rays and High-Resolution Computed Tomography (HRCT) 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 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 which is a common test for cystic fibrosis
- Skin Testing for tuberculosis
- Other Laboratory Tests (urine, blood, feces, lung mucus)
- Bronchoscopy with bronchoalveolar lavage (BAL)
- Electrocardiogram and/or Cardiac Catheterization to check for heart defects or Pulmonary Hypertension
- pH Probe to look for acid reflux
- Exercise Testing
- Genetic Tests – Only a few of the chILD diseases have known genetic causes. Tests on blood and other tissue to find known gene disorders, see if someone carries a gene for a disease, or confirm a diagnosis when symptoms are present
- Pulmonary Function Tests (PFTs) – There are many types of tests. Before the age of 3, some centers can do infant PFTs. These require sedation and are only done in certain centers. By 3 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 lung function. PFTs measure how well the lungs work. These involve a series of breathing moves to test how much air the lungs take in and push out and how fast they can do it. If a child has a lung problem, PFTs can show what type and how severe it is.
- Lung Biopsy – Right now, this is the “gold standard” test used to diagnose and type 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 pathologist are all vital to a successful biopsy. We recommend that you have biopsies performed at experienced chILD centers whenever possible.
Was my child born with chILD?
We don’t understand all the causes of chILD. Some children are affected at birth while others are not affected until later in childhood. There are some children that appear to be healthy until they catch some kind of other illness (i.e. colds, RSV and/or bronchitis). Certain forms of chILD (such as surfactant problems) are inherited through genes. Without more research, it will be difficult to determine the role genetics may play in other forms of chILD.
Does ILD affect adults?
Adults can also suffer from ILD. The most common and severe form is usually interstitial pneumonia/idiopathic pulmonary fibrosis, which has not been found in infants and young children. The term “idiopathic pulmonary fibrosis” means scarring of the lungs for unknown reasons. IPF can occur in children and adults, however, the adult version may not be the same disease process in infants and young children. Because the forms are different, children who have or may have chILD should see a pediatric pulmonologist, ideally with experience in chILD.
Here is a list of the rare disorders that are currently being supported by the chILD Foundation:
- Acute interstitial pneumonia
- Alveolar capillary dysplasia
- Alveolar hemorrhage syndromes:
- Aspiration syndromes
- Autoimmune-related lung disease
- Bronchiolitis obliterans
- Cryptogenic organizing pneumonia
- Desquamative interstitial pneumonia
- DNA repair disorders
- Drug-induced lung disease
- Eosinophilic pneumonias
- Follicular Bronchiolitis
- Growth abnormalities
- Hypersensitivity pneumonitis
- Immune-mediated lung disease
- Lung disease in the immunocompromised host: (Idiopathic pneumonia syndrome)
- Lymphocytic interstitial pneumonia
- Lysosomal storage disorders
- Neuroendocrine Hyperplasia of Infancy (NEHI)
- Nonspecific interstitial pneumonia
- Pulmonary Alveolar Proteinosis (GMCSF antibody mediated)
- Pulmonary Interstitial Glycogenosis (PIG)
- Pulmonary alveolar microlithiasis
- Pulmonary histiocytosis
- Pulmonary lymphagiectasia
- Pulmonary lymphangiomatosis
- Pulmonary vascular disorders
- Pulmonary sarcoidosis
- Radiation-induced lung disease
- Surfactant mutations:
- GMCSF receptor
How do I learn more about chILD?
The information about chILD is limited to the number of research studies that have been done to date. However, there are a few things you can do:
- Keep checking our website. We’re working on getting as much information posted as possible. This non-profit group consists of families affected by chILD as well as the physicians treating ILD and working on finding a cure.
- Ask your pediatrician for more information, but don’t be surprised if he or she doesn’t have enough. chILD is rare and not every doctor has had a chance to learn about it. If there is interest, your doctor can contact the clinical research network for more information.
- Connect with other families through our family forums and on Facebook and Twitter.
How do I help?
Your participation is vital to our success. You can help by:
- Sending a tax deductible donation
- Educating others about chILD
- Raising funds for chILD research
For more information or support, please contact us.