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General Information About Childhood ILD

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What is Children’s Interstitial Lung Disease?

Interstitial lung diseases (ILD) in childhood are rare, heterogeneous conditions that pathologically involve the alveoli, interstitial space and pulmonary vasculature, leading to abnormal gas exchange, lung restriction and diffuse infiltrates on chest imaging. Some forms of ILD are acquired (e.g., pulmonary aspiration, infections and hypersensitivity syndromes), often presenting in childhood and adolescence. However, nearly half of cases are diagnosed in infancy, generally shortly after birth and are associated with abnormal alveolar development.

The severity and clinical course of the ChILD varies. Some are self-limited and resolve without treatment after only months, while others can lead to end-stage lung disease and death. Thus, the correct diagnosis is essential.

Interstitial lung diseases in children, especially children under two years of age, are very different than those that affect adults. For instance, the most common form of pulmonary fibrosis in adults, idiopathic pulmonary fibrosis, does not occur in children. Conversely, neuroendocrine cell hyperplasia of infancy (NEHI) and pulmonary interstitial glycogenosis (PIG) are only found in children. 

A number of the chILD disorders have been found to have a genetic basis. In particular, genetic defects in pulmonary surfactant have been shown to be responsible for some types of ILD. Surfactant is a complex mixture of phospholipids and proteins secreted into the alveoli that prevent their collapse by lowering surface tension and reducing the work of breathing. Pulmonary surfactant deficiency is common in premature babies and leads to respiratory distress syndrome (previously known as hyaline membrane disease), a cause of preterm infant morbidity and death, but inherited defects in specific surfactant proteins leads to ILD in babies born at term. Surfactant protein-B (SP-B) mutations cause fatal respiratory distress in term neonates, while defects in genes encoding surfactant protein-C (SP-C) and more recently ATP-binding cassette protein A3 (ABCA3) have been associated with ILD in children. Links with adult interstitial disease have also been found. Recently, mutations in the NKX2.1 gene have been recognized to cause ILD in infants and young children, as this gene regulates surfactant proteins such as SP-B, SP-C, and ABCA3. Children with these mutations can have a constellation of abnormalities called Brain, Thyroid, Lung Syndrome. 

The identification of these genes and how surfactant protein mutations affect lung development and function has lead to a revolution in how we understand these diseases, but more discoveries are needed. These advances will depend on education, advocacy and research partnerships formed among patients, parents, clinicians and scientists. The ATS and its Public Advisory Roundtable are committed to the concept that research will lead to cures. Increased funding will allow us to uncover other causes of interstitial lung diseases, improve diagnostic testing, and develop treatments for the many patients and families we serve.

Source: Thomas Ferkol, MD, Secretary-Treasurer, American Thoracic Society
Source: Kevin Brown, MD, Chair, ATS Assembly on Clinical Problems
Source: Robin Deterding, MD, Chair, Program Committee of the ATS Assembly on PEDS


Four Facts About chILD

  • Children’s Interstitial Lung Disease (chILD) is not a single disease. It is a group of several rare disorders that affect infants and children.
  • The severity of chILD varies with the diagnosis. Most patients will require oxygen therapy, but the amount needed and duration of treatment also varies.  Some will outgrow their symptoms while others will unfortunately require lung transplants to survive.
  • Since these disorders are rare and newly recognized, very little is known about the best treatments or long term prognosis for these children.
  • The numbers of cases of chILD is not known. It is estimated that there are less than 3000 diagnosed cases of chILD worldwide at this time.

(Source:  www.chILDFoundation.us)