Guérin C, Crestani B, Dupin C, Kawano-Dourado L, Ba I, Kannengiesser C, Borie R
Service de Pneumologie A, Centre de compétences maladies pulmonaires rares, AP-HP, Hôpital Bichat, Paris, France..
Service de Pneumologie A, Centre de compétences maladies pulmonaires rares, AP-HP, Hôpital Bichat, Paris, France.; INSERM, Unité 1152; Université Paris Diderot, Paris, France.
Rev Mal Respir. 2022 Sep;39(7):595-606. doi: 10.1016/j.rmr.2022.03.011. Epub 2022 Jun 14.
Genetic studies of familial forms of interstitial lung disease (ILD) have led to the discovery of telomere-related gene (TRG) mutations (TERT, TERC, RTEL1, PARN, DKC1, TINF2, NAF1, NOP10, NHP2, ACD, ZCCH8) in approximately 30% of familial ILD forms. ILD patients with TRG mutation are also subject to extra-pulmonary (immune-hematological, hepatic and/or mucosal-cutaneous) manifestations. TRG mutations may be associated not only with idiopathic pulmonary fibrosis (IPF), but also with non-IPF ILDs, including idiopathic and secondary ILDs, such as hypersensitivity pneumonitis (HP). The presence of TRG mutation may also be associated with an accelerated decline of forced vital capacity (FVC) or poorer prognosis after lung transplantation, notwithstanding which, usual ILD treatments may be proposed. Lastly, patients and their relatives are called upon to reduce their exposure to environmental lung toxicity, and are likely to derive benefit from specific genetic counseling and pre-symptomatic genetic testing.
对家族性间质性肺疾病（ILD）的遗传学研究已发现，在大约30%的家族性ILD病例中存在端粒相关基因（TRG）突变（TERT、TERC、RTEL1、PARN、DKC1、TINF2、NAF1、NOP10、NHP2、ACD、ZCCH8）。携带TRG突变的ILD患者还会出现肺外（免疫血液学、肝脏和/或黏膜皮肤）表现。TRG突变不仅可能与特发性肺纤维化（IPF）相关，还可能与非IPF的ILD相关，包括特发性和继发性ILD，如过敏性肺炎（HP）。TRG突变的存在也可能与肺移植后用力肺活量（FVC）加速下降或预后较差有关，尽管如此，仍可采用常规的ILD治疗方法。最后，患者及其亲属应减少对环境肺毒性的暴露，并可能从特定的遗传咨询和症状前基因检测中获益。
