Interstitial lung disease in children

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]

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1. [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. [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. [3]Clement A, Eber E Interstitial lung diseases in infants and children. Eur Respir J, 2008.PMID 18310399
4. [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. [5]Deterding RR, Pye C, Fan LL, et al Persistent tachypnea of infancy is associated with neuroendocrine cell hyperplasia. Pediatr Pulmonol, 2005.PMID 15965897
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7. [7]Griese M Chronic interstitial lung disease in children. Eur Respir Rev, 2018.PMID 29436403
8. [8]Nathan N, Berdah L, Delestrain C, et al Interstitial lung diseases in children. Presse Med, 2020.PMID 32563946
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10. [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. [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. [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