Rare genetic interstitial lung diseases: a pictorial essay.

The main monogenic causes of pulmonary fibrosis in adults are mutations in telomere-related genes. These mutations may be associated with extrapulmonary signs (hepatic, haematological and dermatological) and typically present radiologically as usual interstitial pneumonia or unclassifiable fibrosis. In children, the monogenic causes of pulmonary fibrosis are dominated by mutations in surfactant-related genes. These mutations are not associated with extrapulmonary signs and often manifest radiologically as unclassifiable fibrosis with cysts that can lead to chest wall deformities in adults. This review discusses these mutations, along with most of the monogenic causes of interstitial lung disease, including interferon-related genes, mutations in genes causing cystic lung disease, Hermansky-Pudlak syndrome, pulmonary alveolar proteinosis, lysinuric protein intolerance and lysosomal storage disorders, and their pulmonary and extrapulmonary manifestations.
Competing Interests: Conflict of interest: R. Borie reports consultancy fees from Boerhinger Ingelheim, Ferrer and Sanofi, payment or honoraria for lectures, presentations, manuscript writing or educational events from Boehringer Ingelheim, and support for attending meetings from Boehringer Ingelheim. L. Berteloot and C. Kannengiesser have nothing to disclose. M. Griese reports grants from Deutsche Forschungsgemeinschaft, and participation on a data safety monitoring board or advisory board with Boehringer Ingelheim. A. Cazes reports payment or honoraria for lectures, presentations, manuscript writing or educational events from Boehringer Ingelheim. B. Crestani reports grants from Boehringer Ingelheim, consultancy fees from BMS, Boehringer Ingelheim, Chiesi, CSL Behring, GSK and Sanofi, payment or honoraria for lectures, presentations, manuscript writing or educational events from AstraZeneca, BMS, Boehringer Ingelheim, GSK, Novartis, Roche and Sanofi, support for attending meetings from AstraZeneca, BMS, Boehringer Ingelheim, Roche and Sanofi, participation on a data safety monitoring board or advisory board with BMS, Boehringer Ingelheim, Horizon and Sanofi, and a leadership role with Fondation du Souffle (President of the board of trustees). A. Hadchouel has nothing to disclose. M.P. Debray reports consultancy fees from Boehringer Ingelheim, payment or honoraria for lectures, presentations, manuscript writing or educational events from Boehringer Ingelheim, Sanofi and Bracco, and support for attending meetings from Boehringer Ingelheim.
(Copyright ©The authors 2024.)