Childhood interstitial lung disease (chILD) represents a highly abstract
heterogeneous group of rare disorders associated with substantial
morbidity and mortality. Although our understanding of chILD remains
limited, important advances have recently been made, the most important
being probably the appreciation that disorders that present in early life
are distinct from those occurring in older children and adults, albeit with
some overlap. chILD manifests with diffuse pulmonary infiltrates and
nonspecific respiratory signs and symptoms, making exclusion of common
conditions presenting in a similar fashion an essential preliminary step.
Subsequently, a systematic approach to diagnosis includes a careful history
and physical examination, computed tomography of the chest, and some
or all of bronchoscopy with bronchoalveolar lavage, genetic testing, and if
diagnostic uncertainty persists, lung biopsy. This review focuses on chILD
presenting in infants younger than 2 years of age and discusses recent
advances in the classification, diagnostic approach, and management of
chILD in this age range. We describe novel genetic entities, along with
initiatives that aim at collecting clinical data and biologic samples from
carefully characterized patients in a prospective and standardized fashion.
Early referral to expert centers and timely diagnosis may have important
implications for patient management and prognosis, but effective therapies
are often lacking. Following massive efforts, international collaborations
among the key stakeholders are finally starting to be in place. These have
allowed the setting up and conducting of the first randomized controlled
trial of therapeutic interventions in patients with chILD.