Université Paris Cité, Inserm, PHERE, Paris, France
Hôpital Bichat, APHP, Service de Pneumologie A, Centre constitutif du centre de référence des Maladies Pulmonaires Rares, FHU APOLLO, Paris, France.
Eur Respir Rev. 2024 Nov 13;33(174). doi: 10.1183/16000617.0101-2024. Print 2024 Oct.
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.
成人特发性肺纤维化的主要单基因病因是端粒相关基因的突变。这些突变可能与肺外表现（肝、血液和皮肤）有关，且通常表现为普通间质性肺炎或不能分类的纤维化。在儿童中，肺纤维化的单基因病因主要是与表面活性剂相关基因的突变。这些突变与肺外表现无关，且常表现为影像学上不能分类的纤维化伴有囊肿，在成人中可导致胸廓畸形。本文讨论了这些突变以及大多数间质性肺病的单基因病因，包括干扰素相关基因、囊性肺病相关基因的突变、Hermansky-Pudlak 综合征、肺泡蛋白沉积症、赖氨酸尿蛋白不耐受症和溶酶体贮积症及其肺部和肺外表现。
