家族性肺纤维化研究进展

Research progress of familial pulmonary fibrosis

家族性肺纤维化(FPF)定义为家族中有2个或2个以上成员出现肺间质纤维化,为隐匿性遗传病。约半数的FPF患者在第2次就诊时发现,另有半数病例直到家系内出现第2例患者才得以诊断,看似散发性的特发性肺纤维化,而实质上为隐匿性遗传病家系。基因测序是通过血液等体液或细胞对DNA进行测序的技术,可用于FPF的诊断及风险预估。研究报道超过20%的特发性肺纤维化患者有家族史,但目前中国对于肺纤维化患者进行基因检测及家系遗传分析的重视程度较低。中国尚无大规模的FPF统计,以病例报道为主。因此,为了提高对此病的认识及重视,本文对FPF研究进展进行综述。

Familial pulmonary fibrosis(FPF)is defined as pulmonary interstitial fibrosis in two or more members of a family,which is an occult genetic disease.About half of FPF patients were diagnosed at the second visit,and another half of the cases were not diagnosed until the second patient appeared in the family.These patients appear to be sporadic idiopathic pulmonary fibrosis,but belong to a pedigree with occult genetic disease actually.Gene sequencing is a technique for DNA sequencing through blood and other body fluids or cells in the diagnosis and risk assessment of FPF.Studies have reported more than 20%of idiopathic pulmonary fibrosis with a family history.However,Chinese patients with pulmonary fiberosis seldom carry out gene detection and pedigree genetic analysis.There have been no large-scale FPF statistics,mainly case reports in China.To improve the understanding and attention of the disease,the review focuses at the research progress of familial pulmonary fibrosis.