RT Journal Article
SR Electronic
T1 Genetic testing in idiopathic interstitial pneumonia
JF European Respiratory Journal
JO Eur Respir J
FD European Respiratory Society
SP PA4849
DO 10.1183/13993003.congress-2015.PA4849
VO 46
IS suppl 59
A1 Nadia Nathan
A1 Raphaël Borie
A1 Caroline Kannengiesser
A1 Florence Dastot Le Moal
A1 Hilario Nunes
A1 Dominique Valeyre
A1 Martine Reynaud-Gaubert
A1 Sylvain Marchand-Adam
A1 Jean-Marc Naccache
A1 Grégoire Prevot
A1 Guillaume Lezmi
A1 Christophe Delacourt
A1 Dominique Israël Biet
A1 Caroline Thumerelle
A1 Antoine Deschildre
A1 Christophe Marguet
A1 Philippe Reix
A1 Vincent Cottin
A1 Marie-Laure Dalphin
A1 Anne Gondouin
A1 Clément Picard
A1 Violaine Giraud
A1 Claire Dromer
A1 Marie Legendre
A1 Laurent Gouya
A1 Bruno Crestani
A1 Annick Clement
A1 Serge Amselem
YR 2015
UL http://erj.ersjournals.com/content/46/suppl_59/PA4849.abstract
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.