APHP, Hôpital Bichat, Service de Pneumologie A, Centre de compétences pour les Maladies Pulmonaires Rares, Paris, France.
Curr Opin Pulm Med. 2012 Sep;18(5):455-61. doi: 10.1097/MCP.0b013e328356b15c.
Familial pulmonary fibrosis has long been recognized and suggests that pulmonary fibrosis may have a genetic origin in some cases with an autosomal dominant transmission.
Mutations in the telomerase complex and in the surfactant pathways have been discovered in the last decade. Almost 20% of the cases of familial pulmonary fibrosis are related to known functional mutations in one of these systems. A polymorphism in the promoter of the MUC5B gene has been associated with both sporadic and familial forms of idiopathic pulmonary fibrosis; however, the impact of this association remains to be determined.
These genes point to alveolar epithelium injury and repair as a major component of the fibrotic process.
家族性肺纤维化由来已久，提示在某些情况下肺纤维化可能具有遗传起源，呈常染色体显性遗传。
过去十年中，已发现端粒酶复合物和表面活性剂途径的突变。将近 20%的家族性肺纤维化病例与这些系统之一的已知功能突变有关。MUC5B 基因启动子中的多态性与特发性肺纤维化的散发性和家族性形式均有关联；然而，这种关联的影响仍有待确定。
这些基因表明肺泡上皮损伤和修复是纤维化过程的主要组成部分。
