PT  - JOURNAL ARTICLE
AU  - Nadia Nathan
AU  - Raphaël Borie
AU  - Caroline Kannengiesser
AU  - Florence Dastot Le Moal
AU  - Hilario Nunes
AU  - Dominique Valeyre
AU  - Martine Reynaud-Gaubert
AU  - Sylvain Marchand-Adam
AU  - Jean-Marc Naccache
AU  - Grégoire Prevot
AU  - Guillaume Lezmi
AU  - Christophe Delacourt
AU  - Dominique Israël Biet
AU  - Caroline Thumerelle
AU  - Antoine Deschildre
AU  - Christophe Marguet
AU  - Philippe Reix
AU  - Vincent Cottin
AU  - Marie-Laure Dalphin
AU  - Anne Gondouin
AU  - Clément Picard
AU  - Violaine Giraud
AU  - Claire Dromer
AU  - Marie Legendre
AU  - Laurent Gouya
AU  - Bruno Crestani
AU  - Annick Clement
AU  - Serge Amselem
TI  - Genetic testing in idiopathic interstitial pneumonia
AID  - 10.1183/13993003.congress-2015.PA4849
DP  - 2015 Sep 01
TA  - European Respiratory Journal
PG  - PA4849
VI  - 46
IP  - suppl 59
4099  - http://erj.ersjournals.com/content/46/suppl_59/PA4849.short
4100  - http://erj.ersjournals.com/content/46/suppl_59/PA4849.full
SO  - Eur Respir J2015 Sep 01; 46
AB  - Background: Idiopathic interstitial pneumonia (IIP)s are severe diseases that can occur from neonates to elderly. A genetic cause is identified in around 2% cases in sporadic cases, and up to 20% in familial cases, telomerase genes mutations being the first etiology. We aimed to identify the relevance of a systematic surfactant genetic testing in familial or sporadic early cases (before 50 years-old) of IIP with no telomerase gene mutations.Methods: Patients were recruited through the French national network for rare lung diseases. All the surfactant system genes in which mutations has been involved in IIP were sequenced by Sanger method: genes encoding the surfactant proteins A2, B and C (SFTPA2, SFTPB, SFTPC), and their transporter, the ATP-binding cassette family A member 3 (ABCA3). A signed informed consent and a clinical form were obtained for each patient.Results: A population of 227 patients (203 unrelated families) was included. Forty-two cases (20%) were familial, 89 were children at the time of the diagnosis. A genetic cause was identified for 15 unrelated patients (7.4% of the families): 7 children aged 0 to 1.5 years, and 8 adults aged 28 to 64 years, including 3 familial cases. In children, 4 had a SFTPC mutation, 3 had a homozygous or compound heterozygous ABCA3 mutation. In adults, 2 had a SFTPA2 mutation, 4 a SFTPC mutation and 2 an ABCA3 mutation. In addition, 8 patients had a heterozygous ABCA3 mutation.Discussion: A genetic cause of IIP has been identified in a number of IIP, not only in familial cases (7%), but also in sporadic cases (7%), in children (7.9%) and in adult cases (7%). These results suggest that surfactant testing is of importance in the diagnosis of IIP in children, but also in adults.