• Raphael Borie, Caroline Kannengiesser, Clairelyne Dupin, Marie-Pierre Debray, Aurélie Cazes, and Bruno Crestani.
• Unité 1152, Inserm, DHU FIRE, service de pneumologie A, centre de référence des maladies pulmonaires rares, université Paris Diderot, hôpital Bichat, AP-HP, 75013 Paris, France. Electronic address: raphael.borie@aphp.fr.
• Presse Med. 2020 Jun 1; 49 (2): 104024.

AbstractAt least 10% of patients with pulmonary fibrosis, whether idiopathic or secondary, present heritable pulmonary fibrosis suspected on familial aggregation of pulmonary fibrosis, specific syndromes or early age of diagnosis. Approximately 30% of those patients have an identified mutation mostly in telomere related genes (TRG) more rarely in surfactant homeostasis or other genes. TRG mutation may be associated with hematological and hepatic diseases that may worsen after lung transplantation requiring a specific care and adapted immunosuppression. Surfactant genes mutations are usually associated with ground-glass opacities and cysts on CT scan and may improve with steroids, hydroxychloroquine or azithromycin. Moreover relatives should benefit from a genetic analysis associated with a clinical evaluation according to the gene involved. Genetics of pulmonary fibrosis raise specific problems from diagnosis, therapy or genetic counseling varying from one gene to another.Copyright © 2020 Elsevier Masson SAS. All rights reserved.

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