Luo Man, Wang Jiao-Li
Department of Respiratory Medicine, Affiliated Hangzhou First People's Hospital Zhejiang University School of Medicine Hangzhou China.
Department of Translation Medicine Center, Key Laboratory of Clinical Cancer Pharmacology and Toxicology Research of Zhejiang Province, Affiliated Hangzhou First People's Hospital Zhejiang University School of Medicine Hangzhou China.
Respirol Case Rep. 2022 Sep 6;10(10):e01032. doi: 10.1002/rcr2.1032. eCollection 2022 Oct.
Interstitial lung diseases (ILDs) are common respiratory diseases with limited treatment options and poor prognoses. Early and accurate diagnosis of ILD is challenging and requires a multidisciplinary discussion. We report a 32-year-old patient admitted to our hospital with cough and increasing dyspnea on exertion. Computerized tomography scan of his chest demonstrated diffuse interstitial abnormalities, emphysematous changes, and a pneumothorax. Whole-exome sequencing (WES) and Sanger sequencing indicated a compound mutation of heterozygosity in RTEL1 gene c.2992C > T(p.Arg998*) and c.482T > C(p.Val161Ala). In-silicon analysis revealed the pathogenic nonsense mutation c.2992C > T, which introduced a premature stop codon in exon 30 of RTEL1. The patient is still alive with progressive dyspnea to now. We reviewed the pathophysiology of ILD patients carrying RTEL1 mutations and the roles of RTEL1 mutation in guiding treatment and prognostication in ILD.
间质性肺疾病（ILDs）是常见的呼吸系统疾病，治疗选择有限且预后较差。ILD的早期准确诊断具有挑战性，需要多学科讨论。我们报告一名32岁患者因咳嗽和劳力性呼吸困难加重入住我院。其胸部计算机断层扫描显示弥漫性间质异常、肺气肿改变和气胸。全外显子组测序（WES）和桑格测序表明RTEL1基因c.2992C＞T（p.Arg998*）和c.482T＞C（p.Val161Ala）存在杂合性复合突变。硅基分析揭示了致病性无义突变c.2992C＞T，该突变在RTEL1的第30外显子中引入了一个提前终止密码子。该患者至今仍存活，伴有进行性呼吸困难。我们回顾了携带RTEL1突变的ILD患者的病理生理学以及RTEL1突变在ILD治疗和预后指导中的作用。
