Serviço de Pneumologia, Centro Hospitalar de Vila Nova de Gaia/Espinho, 4434-502 Vila Nova de Gaia, Portugal.
Serviço de Imagiologia, Centro Hospitalar de Vila Nova de Gaia/Espinho, 4434-502 Vila Nova de Gaia, Portugal.
Genes (Basel). 2023 Jan 27;14(2):326. doi: 10.3390/genes14020326.
Familial interstitial pneumonia (FIP) is defined as idiopathic interstitial lung disease (ILD) in two or more relatives. Genetic studies on familial ILD discovered variants in several genes or associations with genetic polymorphisms. The aim of this study was to describe the clinical features of patients with suspected FIP and to analyze the genetic variants detected through next-generation sequencing (NGS) genetic testing. A retrospective analysis was conducted in patients followed in an ILD outpatient clinic who had ILD and a family history of ILD in at least one first- or second-degree relative and who underwent NGS between 2017 and 2021. Only patients with at least one genetic variant were included. Genetic testing was performed on 20 patients; of these, 13 patients had a variant in at least one gene with a known association with familial ILD. Variants in genes implicated in telomere and surfactant homeostasis and variants were detected. Most variants were classified with uncertain clinical significance. Probable usual interstitial pneumonia radiological and histological patterns were the most frequently identified. The most prevalent phenotype was idiopathic pulmonary fibrosis. Pulmonologists should be aware of familial forms of ILD and genetic diagnosis.
家族性间质性肺炎（FIP）定义为两个或多个亲属中特发性间质性肺疾病（ILD）。家族性ILD 的遗传研究发现了几个基因的变异或与遗传多态性的关联。本研究旨在描述疑似 FIP 患者的临床特征，并分析通过下一代测序（NGS）基因检测检测到的遗传变异。对 2017 年至 2021 年间在ILD 门诊接受 NGS 检测的ILD 且至少有一级或二级亲属ILD 家族史的患者进行回顾性分析。仅纳入至少有一个遗传变异的患者。对 20 名患者进行了基因检测；其中，13 名患者的至少一个基因存在与家族性 ILD 相关的已知变异。检测到涉及端粒和表面活性剂动态平衡的基因和 变异。大多数变异被归类为临床意义不确定。最常识别的是可能的寻常型间质性肺炎的影像学和组织学模式。最常见的表型是特发性肺纤维化。肺病学家应该了解家族性ILD 形式和遗传诊断。
