Diffuse lung disease in young children: Application of a novel classification scheme

Gail H. Deutsch, Lisa R. Young, Robin R. Deterding, Leland L. Fan, Sharon D. Dell, Judy A. Bean, Alan S. Brody, Lawrence M. Nogee, Bruce C. Trapnell, Claire Langston*, Eric A. Albright, Frederic B. Askin, Peter Baker, Pauline M. Chou, Carlyne M. Cool, Susan C. Coventry, Ernest Cutz, Mary M. Davis, Megan K. Dishop, Csaba GalambosKathleen Patterson, William D. Travis, Susan E. Wert, Frances V. White

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

349 Scopus citations


Rationale: Considerable confusion exists regarding nomenclature, classification, and management of pediatric diffuse lung diseases due to the relative rarity and differences in the spectrum of disease between adults and young children. Objectives: A multidisciplinary working group was formed to: (1) apply consensus terminology and diagnostic criteria for disorders presenting with diffuse lung disease in infancy; and (2) describe the distribution of disease entities, clinical features, and outcome in young children who currently undergo lung biopsy in North America. Methods: Eleven centers provided pathologic material, clinical data, and imaging fromall children less than 2 years of agewho underwent lung biopsy for diffuse lung disease from 1999 to 2004. Measurements and Main Results: Multidisciplinary review categorized 88% of 187 cases. Disorders more prevalent in infancy, including primary developmental and lung growth abnormalities, neuroendocrine cell hyperplasia of infancy, and surfactant-dysfunction disorders, constituted the majority of cases (60%). Lung growth disorders were often unsuspected clinically and under-recognized histologically. Cases with known surfactant mutations had characteristic pathologic features. Age at biopsy and clinical presentation varied among categories. Pulmonary hypertension, presence of a primary developmental abnormality, or ABCA3 mutation was associated with high mortality, while no deaths occurred in cases of pulmonary interstitial glycogenosis, or neuroendocrine cell hyperplasia of infancy. Conclusions: This retrospective cohort study identifies a diverse spectrum of lung disorders, largely unique to young children. Application of a classification scheme grouped clinically distinct patients with variable age of biopsy and mortality. Standardized terminology and classification will enhance accurate description and diagnosis of these disorders.

Original languageEnglish (US)
Pages (from-to)1120-1128
Number of pages9
JournalAmerican journal of respiratory and critical care medicine
Issue number11
StatePublished - Dec 1 2007


  • Infant
  • Interstitial lung disease
  • Neuroendocrine hyperplasia
  • Pulmonary
  • Surfactant

ASJC Scopus subject areas

  • Pulmonary and Respiratory Medicine
  • Critical Care and Intensive Care Medicine


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