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Genetic causes and clinical management of pediatric interstitial lung diseases

Nathan, Nadiaa,b; Borensztajn, Kerenb; Clement, Annicka,b

Current Opinion in Pulmonary Medicine: May 2018 - Volume 24 - Issue 3 - p 253–259
doi: 10.1097/MCP.0000000000000471
GENETICS: Edited by Coline H.M. van Moorsel

Purpose of review Interstitial lung disease (ILD) in children (chILD) is an umbrella term for a heterogeneous group of rare respiratory disorders that are mostly chronic and associated with high morbidity and mortality. The pathogenesis of the various chILD is complex and implicates genetic contributors. The purpose of this review is to provide updated information on the molecular defects associated with the development of chILD.

Recent findings Currently, the main mutations are identified in the surfactant genes SFTPA1, SFTPA2, SFTPB, SFTPC, ABCA3, and NKX2-1. In addition, pulmonary alveolar proteinosis is associated with mutations in CSF2RA, CSF2RB, and MARS, and specific auto-inflammatory forms of chILD implicate STING and COPA disorders. The relationships between the genetic defects and the disease expression remain poorly understood, with no genotype–phenotype correlations identified so far. Although targeted therapies are emerging, the management strategies are still largely empirical, relying mostly on corticosteroids.

Summary Genetic factors play an important role in chILD, and the ongoing development of novel technologies will rapidly broaden the genetic landscape of chILD. Therefore, in the coming years, it is expected that newly identified molecular defects and markers will help predicting disease courses and tailoring individual therapies.

aService de pneumologie pédiatrique, Hôpital Armand Trousseau, Assistance Publique Hôpitaux de Paris (AP-HP), Centre national de référence des maladies respiratoires rares RespiRare

bSorbonne Université and Inserm, UMRS933, Paris, France

Correspondence to Prof. Annick Clement, Pediatric Pulmonology Department, Sorbonne Université and Hôpital Trousseau AP-HP, 26 avenue du Dr Arnold Netter, 75012 Paris, France. Tel: +33 1 44 73 66 18; fax: +33 1 44 73 67 18; e-mail:

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