Borie Raphael, Kannengiesser Caroline, Sicre de Fontbrune Flore, Gouya Laurent, Nathan Nadia, Crestani Bruno
Service de Pneumologie A, Centre de Compétence des Maladies Pulmonaires Rares, Paris, France
DHU FIRE, Hôpital Bichat, APHP, Paris, France.
Eur Respir Rev. 2017 Apr 26;26(144). doi: 10.1183/16000617.0122-2016. Print 2017 Jun 30.
At least 10% of patients with interstitial lung disease present monogenic lung fibrosis suspected on familial aggregation of pulmonary fibrosis, specific syndromes or early age of diagnosis. Approximately 25% of families have an identified mutation in genes mostly involved in telomere homeostasis, and more rarely in surfactant homeostasis.Beyond pathophysiological knowledge, detection of these mutations has practical consequence for patients. For instance, mutations involved in telomere homeostasis are associated with haematological complications after lung transplantation and may require adapted immunosuppression. Moreover, relatives may benefit from a clinical and genetic evaluation that should be specifically managed.The field of genetics of pulmonary fibrosis has made great progress in the last 10 years, raising specific problems that should be addressed by a specialised team.
至少10%的间质性肺疾病患者因肺纤维化的家族聚集性、特定综合征或诊断年龄较早而疑似患有单基因性肺纤维化。大约25%的家族在主要参与端粒稳态的基因中发现了突变，而在表面活性剂稳态相关基因中发现突变的情况则更为罕见。除了病理生理学知识外，这些突变的检测对患者具有实际意义。例如，参与端粒稳态的突变与肺移植后的血液学并发症相关，可能需要调整免疫抑制方案。此外，亲属可能会从临床和基因评估中受益，而这种评估需要进行专门管理。在过去10年里，肺纤维化遗传学领域取得了巨大进展，引发了一些应由专业团队解决的特定问题。
