What are the other Names for this Condition? (Also known as/Synonyms)

• child (Children's Interstitial Lung Disease)
• Primary ILD specific to Childhood
• Primary Interstitial Lung Disease specific to Childhood

What is Children's Interstitial Lung Disease? (Definition/Background Information)

• Children's Interstitial and Diffuse Lung Disease (chILD) is not a single condition, but a group of rare lung diseases found in infants, children and adolescents that can range from mild to severe
• All types of chILD decrease a child's ability to supply oxygen to their body. These diseases make it difficult for the lungs to exchange oxygen and carbon dioxide and can cause fluid and other materials to collect in the lung
• Early diagnosis and treatment is important for any type of Children's Interstitial Lung Disease

(Source: Children's Interstitial Lung Disease; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

The different types of Children’s Interstitial Lung Disease include:

• Lung disease associated with abnormalities in connective tissue
• Bronchiolitis-related lung disease
• Cryptogenic organizing pneumonia
• Alveolar capillary dysplasia-related lung disease (developmental abnormality)
• Lung disease related to structural abnormalities of the lungs
• Familial surfactant deficiency related lung disease
• Pulmonary interstitial glycogenosis-related lung disease
• Allergy-related lung disease
• Neuroendocrine hyperplasia of Infancy

Who gets Children's Interstitial Lung Disease? (Age and Sex Distribution)

• Children's Interstitial Lung Disease is a rare disorder. The presentation of symptoms occur in childhood
• Both males and females may be affected
• Worldwide, individuals of all racial and ethnic groups may be affected

What are the Risk Factors for Children's Interstitial Lung Disease? (Predisposing Factors)

The risk factors for Children's Interstitial Lung Disease may include:

• Surfactant deficiency in children, which may be inherited
• Anatomical defects in the lungs that are present at birth
• Immune system disorders
• Systemic diseases
• Exposure to airway irritants
• Chemotherapy; radiation therapy
• Transplantations, such as those of bone marrow or lung

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Children's Interstitial Lung Disease? (Etiology)

Children's Interstitial Lung Disease is caused by inefficient lung function, and consequently inadequate oxygen supply in a child’s body. This may occur due to damage to tissues in and around the airways and air sacs.

The conditions that cause damage to lung tissues may include:

• Aspiration of food, vomit or liquids into the airways; this is more likely in children with swallowing difficulties
• Chemotherapy or radiation therapy for cancers, which may cause injuries to the lung tissue
• Exposure to certain irritants, including chemicals, toxins and fungal spores (Example: humidifier disinfectant) 
• Defects in structure of the lungs that are present from birth
• Immune-system and autoimmune disorders that may make a child prone to recurrent infections, which may cause scarring of lung tissues
• Bone marrow or lung transplant
• Surfactant deficiency: The surfactants form an effective barrier against infection by pathogens. SFTPB, SFTPC and ABCA3 genes are involved in the synthesis different surfactant proteins, and a mutation in any of these genes may cause surfactant deficiency. While SFTPB and ABCA3 gene mutations are inherited in an autosomal recessive manner, mutations in the SFTPC gene follow autosomal dominant mode of transmission

Autosomal dominant inheritance: Autosomal dominant conditions are traits or disorders that are present when only one copy of the mutation is inherited on a non-sex chromosome. In these types of conditions, the individual has one normal copy and one mutant copy of the gene. The abnormal gene dominates, masking the effects of the correctly function gene. If an individual has an autosomal dominant condition, the chance of passing the abnormal gene on to their offspring is 50%. Children, who do not inherit the abnormal gene, will not develop the condition or pass it on to their offspring.

Autosomal recessive inheritance: Autosomal recessive conditions are traits or disorders that occur when two copies of an abnormal gene have been inherited on a non-sex chromosome. If both parents have an autosomal recessive condition, there is a 100% likelihood of passing on the mutated genes to their children. If, however, only one mutant copy of the gene is inherited, the individual will be a carrier of the condition, but will not be present with any symptoms. Children born to two carriers, have a 25% chance of being homozygous dominant (unaffected), a 50% chance of being heterozygous (carrier), and a 25% chance of being homozygous recessive (affected).

What are the Signs and Symptoms of Children's Interstitial Lung Disease?

The signs and symptoms of Children's Interstitial Lung Disease may include:

• Labored breathing; rapid breathing
• Coughing, wheezing
• Cracking sounds in the chest
• Low oxygen levels in blood
• Clubbing, which is enlargement of tips of toes and fingertips
• Shortness of breath while eating (infants) or exercising (older children)
• Inadequate weight gain
• Recurrent infections

How is Children's Interstitial Lung Disease Diagnosed?

Children's Interstitial Lung Disease is diagnosed on the basis of the following information:

• Complete physical examination
• Thorough medical history evaluation
• Assessment of signs and symptoms
• Tests to assess lung function
• Laboratory tests
• Imaging studies
• Biopsy studies, if necessary

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Children's Interstitial Lung Disease?

The complications of Children's Interstitial Lung Disease may include:

• Poor growth
• Bronchiolitis
• Pneumonia
• Infection with respiratory syncytial virus, which can be life-threatening in children
• Respiratory failure

Complications may occur with or without treatment, and in some cases, due to treatment also.

How is Children's Interstitial Lung Disease Treated?

• There is no single treatment for Interstitial Lung Diseases in Children.Different forms of Children's Interstitial Lung Disease require different treatments and support depending on the condition 
• The goals of treatment for chILD is to relieve symptoms, provide support to maximize growth and development, and to prevent exposure to preventable illnesses that could make the condition worse

(Source: Children's Interstitial Lung Disease; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

How can Children's Interstitial Lung Disease be Prevented?

At the present time, there are no effective methods or guidelines available for the prevention of Children's Interstitial Lung Disease.

• Seeking medical attention at the onset of signs and symptoms may help avoid life-threatening complications
• Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy), if available, may help in understanding the risks better during pregnancy
• If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
• Strictly adhering to the treatment regimen, as directed by the healthcare provider, is imperative to the recovery of the child
• Minimizing exposure to pathogens and pollutants may help prevent complications. Frequent hand washing by members of the entire family can prevent illnesses from spreading to the affected child
• Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders
• Regular medical screening at periodic intervals with tests and physical examinations are recommended

What is the Prognosis of Children's Interstitial Lung Disease? (Outcomes/Resolutions)

• The prognosis of Children's Interstitial Lung Disease is dependent upon the severity of the signs and symptoms and associated complications, if any
• Some children with a severe form of Children's Interstitial Lung Disease may succumb to the condition, while in others, the condition may become chronic and slowly progressive
• Some children are known to show an improvement in their condition over time

Additional and Relevant Useful Information:

The following DoveMed website link is a useful resource for additional information:

http://www.dovemed.com/diseases-conditions/rare-disorders/