Paeds · respiratory-sleep-and-airway
Interstitial lung disease in children
Also known as chILD · Children's interstitial lung disease · Childhood interstitial and diffuse lung disease · Diffuse lung disease in children · Paediatric interstitial lung disease
Fellowship guide to children's interstitial lung disease (chILD) — the chILD syndrome that flags it, the infancy-versus-older-child classification that frames it, the surfactant-dysfunction and neuroendocrine-cell-hyperplasia biology that drives the commonest genetic forms, the HRCT-genetics-biopsy pathway that names it, and the supportive-plus-disease-specific management delivered through a specialist chILD centre.
On this page
Study tools
Your progress
Saved on this device.
Practise this topic
Target exams
Red flags
- A young infant with persistent tachypnoea, hypoxaemia, crackles and failure to thrive who does not fit bronchiolitis, cystic fibrosis or congenital heart disease has chILD until proven otherwise and needs a diffuse-lung-disease work-up, not another course of antibiotics
- Diffuse ground-glass change on chest imaging in an infant is an abnormal interstitium, not just infection — it demands a structured chILD evaluation including surfactant-gene testing
- A term newborn with unexplained, severe, progressive respiratory failure and diffuse lung disease may have a lethal surfactant protein B or ABCA3 deficiency, and early genetic testing changes counselling and transplant decisions
- Neuroendocrine cell hyperplasia of infancy is a clinical-radiological diagnosis in a well-grown infant with persistent tachypnoea and a classic HRCT — recognising it avoids an unnecessary lung biopsy and needless immunosuppression
- Progressive hypoxaemia, pulmonary hypertension or failure to thrive in a child with chILD signals severe disease and warrants urgent referral to a specialist chILD centre
Life stages
Care settings
Clinical exam formats
Board mappings
- Respiratory Medicine
- General and Community Paediatrics
- Children's interstitial and diffuse lung disease
- Paediatric respiratory and sleep medicine competencies
- Diagnosis and management of children's interstitial lung disease
- Genetic surfactant disorders and the chILD spectrum
- Clinical Applications
- Evaluation of the infant with diffuse lung disease and chILD syndrome
- Long and Short Cases
- Respiratory long case: the child with chronic interstitial lung disease
- 1. Good clinical care: Managing complexity and uncertainty
- Respiratory: Evaluates and manages the child with diffuse or interstitial lung disease
- Foundation of Practice (FOP)
- Applied Knowledge in Practice (AKP)
- Respiratory medicine
- Clinical
- Respiratory assessment and management
- History taking and management planning
- General Pediatrics Content Outline — Respiratory system
- Interstitial and diffuse lung disease in children
- General Pediatrics EPA: Evaluate the child with chronic respiratory disease
- Patient Care: Evaluation and management of paediatric interstitial lung disease
- Medical Knowledge: The chILD spectrum and genetic surfactant disorders
- Systems-Based Practice: rational use of HRCT, genetics, biopsy, and specialist referral
- Medical Expert
- Paediatric respiratory assessment and interstitial lung disease management
- Pediatrics Core EPA — Assessing and managing chronic respiratory disease
Overview & Definition
An infant of a few months is breathing fast all the time, tires during feeds, is slipping down the weight centiles, and has fine crackles heard across both lungs. Bronchiolitis was diagnosed twice, but the tachypnoea never really settled and the oxygen saturations sit a little low. The reflex to resist is another round of antibiotics; the thought to have instead is that a persistently abnormal interstitium can look exactly like this, and that this baby may have children's interstitial lung disease. [1] [3]
Children's interstitial lung disease, universally abbreviated to chILD, is not one disease but an umbrella term for more than a hundred rare disorders that share a common target: the alveolar-interstitial region of the lung. Whatever the trigger, the interstitium and the surrounding alveoli become thickened, inflamed, or scarred, so the delicate barrier for gas exchange no longer works efficiently. The result is chronic hypoxaemia and breathlessness out of proportion to any single infection. [3] [7]
Because the individual disorders are rare and easily missed, the field agreed on a practical entry point called the chILD syndrome. A child is said to have the chILD syndrome when diffuse lung disease is present with at least three of four features — respiratory symptoms such as cough or exertional breathlessness, respiratory signs such as tachypnoea, crackles, retractions or clubbing, hypoxaemia, and diffuse abnormalities on a chest radiograph or CT — and the more common explanations have been excluded. [1] [4]
That definition is deliberately a screening trigger rather than a final answer. Meeting the chILD syndrome does not name the disease; it says the child has crossed the threshold that demands a structured diffuse-lung-disease evaluation. The job that follows is to exclude the everyday causes, then work through imaging, genetics, and sometimes biopsy to reach the specific diagnosis that decides treatment and prognosis. [1] [4]
References12ShowHide
- [1]Kurland G, Deterding RR, Hagood JS, et al An official American Thoracic Society clinical practice guideline: classification, evaluation, and management of childhood interstitial lung disease in infancy. Am J Respir Crit Care Med, 2013.PMID 23905526
- [2]Deutsch GH, Young LR, Deterding RR, et al Diffuse lung disease in young children: application of a novel classification scheme. Am J Respir Crit Care Med, 2007.PMID 17885266
- [3]Clement A, Eber E Interstitial lung diseases in infants and children. Eur Respir J, 2008.PMID 18310399
- [4]Bush A, Cunningham S, de Blic J, et al European protocols for the diagnosis and initial treatment of interstitial lung disease in children. Thorax, 2015.PMID 26135832
- [5]Deterding RR, Pye C, Fan LL, et al Persistent tachypnea of infancy is associated with neuroendocrine cell hyperplasia. Pediatr Pulmonol, 2005.PMID 15965897
- [6]Young LR, Brody AS, Inge TH, et al Neuroendocrine cell distribution and frequency distinguish neuroendocrine cell hyperplasia of infancy from other pulmonary disorders. Chest, 2011.PMID 20884725
- [7]Griese M Chronic interstitial lung disease in children. Eur Respir Rev, 2018.PMID 29436403
- [8]Nathan N, Berdah L, Delestrain C, et al Interstitial lung diseases in children. Presse Med, 2020.PMID 32563946
- [9]Fan LL, Deterding RR, Langston C Pediatric interstitial lung disease revisited. Pediatr Pulmonol, 2004.PMID 15376335
- [10]Nogee LM, Dunbar AE 3rd, Wert SE, et al A mutation in the surfactant protein C gene associated with familial interstitial lung disease. N Engl J Med, 2001.PMID 11207353
- [11]Shulenin S, Nogee LM, Annilo T, et al ABCA3 gene mutations in newborns with fatal surfactant deficiency. N Engl J Med, 2004.PMID 15044640
- [12]Nogee LM, de Mello DE, Dehner LP, et al Brief report: deficiency of pulmonary surfactant protein B in congenital alveolar proteinosis. N Engl J Med, 1993.PMID 8421459