Šterclová Martina, Doubek Michael, Doubková Martina
Vnitr Lek. 2020 Summer;66(6):365-370.
Familial pulmonary fibrosis (FPF) is defined as interstitial lung involvement in at least two members of the same biological family. Pathogenesis of FPF involves background of genetic risk factors further modified by environmental exposures and aging. Manifesta tion of FPF mirrors manifestation of interstitial lung diseases generally. Patients may present also with involvement of other organs, as seen usually in those affected by complex syndromes or telomeropaties. Described mutations concern telomeres homeostasis genes (TERT, TERC, RTEL1, PARN, DKC1, TINF, NAF1), surfactant genes (SFTPC, ABCA3, NFKX21) or genes associated with complex syndromes (COPA, TMEM173, HPS18, NF1, FAM111B, NDUFAF6, GATA 2). Genetic tests are indicated by specialist in clinical genetics, optimaly after consultation with respiratory specialist involved in interstitial lung diseases. Treatment of FPF is currently unknown. In patients with multiorgan involvement growing number of organs may be affected in time and sometimes dysfunction of mostly severe affected organ may manifest before interstitial lung involvement.
家族性肺纤维化（FPF）被定义为同一生物学家族中至少两名成员出现间质性肺受累。FPF的发病机制涉及遗传风险因素背景，这些因素会因环境暴露和衰老而进一步改变。FPF的表现通常反映了间质性肺疾病的表现。患者也可能出现其他器官受累，这在通常受复杂综合征或端粒疾病影响的患者中较为常见。已描述的突变涉及端粒稳态基因（TERT、TERC、RTEL1、PARN、DKC1、TINF、NAF1）、表面活性剂基因（SFTPC、ABCA3、NFKX21）或与复杂综合征相关的基因（COPA、TMEM173、HPS18、NF1、FAM111B、NDUFAF6、GATA 2）。临床遗传学专家建议进行基因检测，最好在与参与间质性肺疾病的呼吸专科医生会诊后进行。目前，FPF的治疗方法尚不清楚。在多器官受累的患者中，随着时间的推移，可能会有越来越多的器官受到影响，有时最严重受累器官的功能障碍可能在间质性肺受累之前就会表现出来。
