Childhood Interstitial Lung Disease (ChILD) Clinical Presentation

Updated: Feb 21, 2020
  • Author: Rebekah J Nevel, MD; Chief Editor: Girish D Sharma, MD, FCCP, FAAP  more...
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Presentation

History

Diagnosing childhood interstitial lung disease (chILD) requires a high index of suspicion. The delay between the onset of symptoms and the ultimate diagnosis is often months to years. Respiratory symptoms can be subtle in infants and children, and clinicians often treat ILD as asthma. A delay in referral can lead to clinically significant remodeling of the lung before diagnosis.

A clinical practice guideline from the American Thoracic Society outlines the classification, evaluation, and management of chILD. [20] Another guideline, which was published through the chILD-European Union (EU) Collaboration, includes diagnosis and treatment for chILD. [21]

The clinical history varies substantially by age. The onset of disease is often insidious, with caregivers or patients unsure when the illness actually began. Occasionally, patients present with relatively few symptoms but with abnormal findings on chest radiographs or pulmonary function tests (PFTs). Some patients, especially newborns with surfactant-dysfunction mutations, may present with respiratory failure.

The European Respiratory Task Force cohort of 185 patients with chILD reported the following symptoms [19] :

  • Tachypnea and dyspnea are common. Tachypnea is present in most patients (76%), particularly infants. Younger infants manifest retractions, difficulty in feeding, and diaphoresis with feeding; cyanosis may be evident during feeding or at rest. Exercise intolerance is often noted in older children.

  • A dry, nonproductive cough is frequently reported (78%) and can be the only symptom of interstitial lung disease (ILD), even in the newborn.

  • Failure to thrive and weight loss are common symptoms (37% overall, 62% in children aged < 2 years), which may result from anorexia, difficulty in feeding, and increased energy expenditure from the increased work of breathing.

  • Hemoptysis may indicate a vasculitic process or a pulmonary hemorrhage syndrome.

  • Chest pain has been reported in older children.

  • Fever may be present (20%), which suggests infectious or inflammatory causes.

  • Wheezing occurs in approximately 20% of patients.

A careful family history is critical because some forms of chILD may have a genetic basis, which may be associated with neonatal deaths, unexplained childhood respiratory disease, or ILD in adults.

Next:

Physical Examination

General physical findings include the following:

  • Growth retardation, signs of weight loss, and failure to thrive
  • Hypoxemia on room air
  • Desaturation during sleep, during feeding (infants), or with exercise (eg, 6-minute walk test in older children and adolescents)

Auscultation may reveal normal findings or dry crackles that sound like Velcro being pulled apart; these are present in only a subset of patients (44%). [35]

Deformity of the chest has been reported and may indicate lung hypoplasia, as well the effects of prolonged illness. A study of 9 children with ABCA3 deficiency reported pectus excavatum as a frequent finding. [25]  Signs of hyperinflation, such as increased chest diameter, or a palpable liver and spleen may be evident.

Signs consistent with pulmonary hypertension may be present. Examples include an active precordium, which signifies right ventricular hypertrophy, and a loud pulmonary component to the second heart sound.

Cyanosis occurs in 28% of patients. Clubbing is a late manifestation of ILD, which is evident in 13% of patients. [35]

Stigmata of collagen vascular diseases, vasculitides, and other systemic disorders should be carefully sought.

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