Children’s Interstitial Lung Disease (chILD)

What is Interstitial Lung Disease in Children?

Children’s interstitial lung disease, or chILD, is a group of rare chronic lung conditions that affect the tissue and space around the air sacs (alveoli) in the lungs. This area, known as the interstitium, can become inflamed or scarred, which interferes with normal oxygen exchange and makes it difficult for the child to breathe. In some cases, the airways themselves are also affected.

While some forms of ILD may be mild and reversible, others can be progressive and lead to long-term damage. The disease can present in infancy, childhood, or adolescence, and it encompasses over 200 different types of lung disorders.

Causes and Types

chILD can have many different causes. Broadly, it can arise from:

Developmental or genetic abnormalities (e.g. alveolar capillary dysplasia, surfactant protein deficiencies)
Immune system dysfunction (autoimmune or immunodeficiency-related lung disease)
Exposure-related lung damage (e.g. aspiration, environmental irritants)
Systemic or multi-organ diseases (e.g. connective tissue diseases, storage disorders)

Common Types of chILD:

Neuroendocrine Cell Hyperplasia of Infancy (NEHI)
Pulmonary Interstitial Glycogenosis (PIG)
Bronchopulmonary Dysplasia (BPD)
Surfactant Dysfunction Disorders (e.g. SP-B, SP-C, ABCA3 gene mutations)
Hypersensitivity Pneumonitis
Pulmonary Alveolar Proteinosis
Lymphatic or Vascular Disorders (e.g. lymphangiectasia, pulmonary hypertension)

Symptoms of chILD

Children with interstitial lung disease may present with some or all of the following symptoms:

Persistent rapid breathing (tachypnoea)
Shortness of breath, especially with activity
Chronic or recurrent cough
Noisy breathing or crackles heard on auscultation
Retractions (sinking in of skin around ribs/neck when breathing)
Failure to thrive (poor weight gain or growth)
Low oxygen levels (may require oxygen support)
Recurrent chest infections or pneumonia

Symptoms may be present even when the child is not acutely unwell. The severity and progression of symptoms can vary widely.

Diagnosis

Diagnosing ILD in children can be complex and requires ruling out more common conditions such as asthma, cystic fibrosis, aspiration, or congenital heart disease. Investigations may include:

Chest X-ray and high-resolution CT scan (HRCT) – to assess lung structure
Pulmonary function tests (PFTs) – to evaluate breathing capacity (in older children)
Pulse oximetry and oxygen testing – to monitor oxygen levels
Bronchoscopy with lavage – to check for infection or inflammation
Lung biopsy – may be required to identify a specific type of ILD
Blood tests and immunological workup – to assess immune status or look for inflammation
Genetic testing – if a hereditary cause is suspected
Echocardiography – to rule out pulmonary hypertension or cardiac abnormalities

Treatment and Management

Treatment is tailored to the child’s specific diagnosis, the severity of their symptoms, and their overall health. A multidisciplinary team is usually involved, including paediatric respiratory physicians, radiologists, geneticists, dietitians, and physiotherapists.

Key Management Strategies:

Oxygen Therapy
Supplemental oxygen is often used to prevent low oxygen levels, which can impact growth and heart function.
Nutritional Support
Children with ILD may need extra calories to compensate for the increased effort of breathing. Some may require feeding support via nasogastric or gastrostomy tubes.
Medications
- Anti-inflammatory therapies (e.g. steroids, hydroxychloroquine, azathioprine)
- Immunosuppressants, if autoimmunity is involved
- Antibiotics, if recurrent infections are a problem
- Surfactant therapy or immunoglobulin therapy in selected cases
Airway Clearance and Physiotherapy
Techniques such as chest physiotherapy, positive expiratory pressure (PEP) devices, or high-frequency chest wall oscillation can help mobilise secretions and reduce infections.
Avoiding Triggers
Preventing respiratory infections (via vaccination), avoiding exposure to smoke or allergens, and managing reflux can all help reduce flare-ups.
Lung Transplantation
In severe or progressive cases not responsive to medical treatment, lung transplant may be considered.

Prognosis

The long-term outlook varies depending on the specific type of ILD and how early it is diagnosed and managed. Some forms of chILD improve or stabilise over time, particularly those seen in infancy like NEHI and PIG. Others may require long-term oxygen or immunosuppressive treatment, and some may lead to irreversible scarring and progressive respiratory failure.

Why Early Diagnosis Matters

Early recognition and specialist referral are key to optimising outcomes. Children with unexplained breathing difficulties, chronic cough, or poor weight gain should be assessed by a paediatric respiratory team. Timely investigation and diagnosis allow for earlier treatment, better symptom control, and support for families navigating this complex condition.

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