Julian Pott, Ann-Sophie Höing, Alexander Volk, Lennart Well, Fabian Beier, Dirk Lebrecht, Lars Harbaum, Hans Klose, Tim Oqueka
{"title":"端粒生物学紊乱相关肺部疾病——TERT基因变异引起胸膜实质纤维弹性增生的病例报告。","authors":"Julian Pott, Ann-Sophie Höing, Alexander Volk, Lennart Well, Fabian Beier, Dirk Lebrecht, Lars Harbaum, Hans Klose, Tim Oqueka","doi":"10.1177/14799731251370357","DOIUrl":null,"url":null,"abstract":"<p><p>Case presentationDescription of a patient with a progressive destructive lung disease resembling pleuroparenchymal fibroelastosis, liver cirrhosis and bone marrow changes. Genetic workup identified a rare heterozygous coding variant in the <i>TERT</i> (telomerase reverse transcriptase) gene c.472 C>T; p.(Leu158Phe) and telomere length testing revealed significant telomere shortening, supporting the diagnosis of telomere biology disorder (TBD).DiscussionTBD is an underrecognized cause of interstitial lung disease (ILD). It is a heterogeneous disease that can affect different organs, including lungs, liver and bone marrow. Genetic testing in ILD is crucial for early diagnosis, risk assessment, and family screening. Identifying this variant enables targeted genetic testing for relatives, allowing preventive measures and lifestyle modifications.</p>","PeriodicalId":10217,"journal":{"name":"Chronic Respiratory Disease","volume":"22 ","pages":"14799731251370357"},"PeriodicalIF":2.3000,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12423533/pdf/","citationCount":"0","resultStr":"{\"title\":\"Telomere biology disorder associated lung disease- case report of a <i>TERT</i> gene variant as the cause of pleuroparenchymal fibroelastosis.\",\"authors\":\"Julian Pott, Ann-Sophie Höing, Alexander Volk, Lennart Well, Fabian Beier, Dirk Lebrecht, Lars Harbaum, Hans Klose, Tim Oqueka\",\"doi\":\"10.1177/14799731251370357\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Case presentationDescription of a patient with a progressive destructive lung disease resembling pleuroparenchymal fibroelastosis, liver cirrhosis and bone marrow changes. Genetic workup identified a rare heterozygous coding variant in the <i>TERT</i> (telomerase reverse transcriptase) gene c.472 C>T; p.(Leu158Phe) and telomere length testing revealed significant telomere shortening, supporting the diagnosis of telomere biology disorder (TBD).DiscussionTBD is an underrecognized cause of interstitial lung disease (ILD). It is a heterogeneous disease that can affect different organs, including lungs, liver and bone marrow. Genetic testing in ILD is crucial for early diagnosis, risk assessment, and family screening. Identifying this variant enables targeted genetic testing for relatives, allowing preventive measures and lifestyle modifications.</p>\",\"PeriodicalId\":10217,\"journal\":{\"name\":\"Chronic Respiratory Disease\",\"volume\":\"22 \",\"pages\":\"14799731251370357\"},\"PeriodicalIF\":2.3000,\"publicationDate\":\"2025-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12423533/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Chronic Respiratory Disease\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1177/14799731251370357\",\"RegionNum\":3,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2025/9/10 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q2\",\"JCRName\":\"RESPIRATORY SYSTEM\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Chronic Respiratory Disease","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1177/14799731251370357","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/9/10 0:00:00","PubModel":"Epub","JCR":"Q2","JCRName":"RESPIRATORY SYSTEM","Score":null,"Total":0}
Telomere biology disorder associated lung disease- case report of a TERT gene variant as the cause of pleuroparenchymal fibroelastosis.
Case presentationDescription of a patient with a progressive destructive lung disease resembling pleuroparenchymal fibroelastosis, liver cirrhosis and bone marrow changes. Genetic workup identified a rare heterozygous coding variant in the TERT (telomerase reverse transcriptase) gene c.472 C>T; p.(Leu158Phe) and telomere length testing revealed significant telomere shortening, supporting the diagnosis of telomere biology disorder (TBD).DiscussionTBD is an underrecognized cause of interstitial lung disease (ILD). It is a heterogeneous disease that can affect different organs, including lungs, liver and bone marrow. Genetic testing in ILD is crucial for early diagnosis, risk assessment, and family screening. Identifying this variant enables targeted genetic testing for relatives, allowing preventive measures and lifestyle modifications.
期刊介绍:
Chronic Respiratory Disease is a peer-reviewed, open access, scholarly journal, created in response to the rising incidence of chronic respiratory diseases worldwide. It publishes high quality research papers and original articles that have immediate relevance to clinical practice and its multi-disciplinary perspective reflects the nature of modern treatment. The journal provides a high quality, multi-disciplinary focus for the publication of original papers, reviews and commentary in the broad area of chronic respiratory disease, particularly its treatment and management.