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Classification of diffuse lung disease (interstitial lung disease) in infants and children

Lisa R Young, MD
Section Editor
George B Mallory, MD
Deputy Editor
Alison G Hoppin, MD


Diffuse lung disease (DLD), traditionally known as interstitial lung disease (ILD), consists of a diverse group of disorders that involve the pulmonary parenchyma and interfere with gas exchange. These disorders are classified together because of similar clinical, radiographic, physiologic, or pathologic manifestations.

Although some of the conditions that cause DLD in children and adults are similar, they occur in different proportions in each age group, and certain diseases are unique to infants [1-6]. Historically, the approach to DLD in children has been patterned after nomenclature and prognosis in adults (see "Approach to the adult with interstitial lung disease: Clinical evaluation", section on 'Classification'), and such practice has unfortunately created a great deal of confusion. There are important differences in disease etiology and natural history in the pediatric age group as compared with adults, and the classification of the idiopathic interstitial pneumonias (IIP) used in adults is overall a poor fit for childhood DLD. Prominent examples of these differences are idiopathic pulmonary fibrosis (IPF) and desquamative interstitial pneumonia (DIP). Specifically, IPF, a common IIP in adults that has a very poor prognosis, does not occur in children. Furthermore, pediatric cases of DIP tend to have high mortality and have been associated with ABCA3 and SFTPC mutations, which contrasts with the association between DIP and tobacco smoking and relatively good prognosis in adults [7-9].

In addition, there are forms of DLD that are either unique to young children or have differing manifestations as compared with adults. In the past 10 to 15 years, several new entities have been described in infants and young children, including neuroendocrine cell hyperplasia of infancy (NEHI) and pulmonary interstitial glycogenosis (P.I.G). A great advance has been the recognition and identification of genetic defects of surfactant function, metabolism, and clearance as causes of DLD, including mutations in the genes producing surfactant protein B (SFTPB), surfactant protein C (SFTPC), member A3 of the ATP binding cassette family of transporters (ABCA3), components of the GM-CSF receptor (CSF2RA), and NKX2.1 (thyroid transcription factor-1). (See "Genetic disorders of surfactant dysfunction".)

For all of these reasons, a classification system has been developed specifically for pediatrics [7,10]. The classification of DLD in infants and children will be discussed here. The approach to the infant and child with DLD is presented separately. (See "Approach to the infant and child with diffuse lung disease (interstitial lung disease)".)


The term "diffuse lung disease" (DLD) describes a diverse group of disorders that involve the pulmonary parenchyma and interfere with gas exchange. This term reflects the spectrum of underlying pathology, which often includes extensive alteration of alveolar and airway architecture, in addition to changes in the interstitial compartment. These disorders have traditionally been described as "interstitial lung disease" (ILD), but that term is less accurate because the interstitium is not involved in some types, such as neuroendocrine cell hyperplasia of infancy. Another term used in the literature is "diffuse parenchymal lung disease" [11].

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Literature review current through: Nov 2017. | This topic last updated: Oct 03, 2016.
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