Pott Julian, Höing Ann-Sophie, Volk Alexander, Well Lennart, Beier Fabian, Lebrecht Dirk, Harbaum Lars, Klose Hans, Oqueka Tim
Department of Pulmonology, II.Medical Clinic and Polyclinic, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Martin Zeitz Center for Rare Diseases, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Chron Respir Dis. 2025 Jan-Dec;22:14799731251370357. doi: 10.1177/14799731251370357. Epub 2025 Sep 10.
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 (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.
描述一名患有进行性破坏性肺病的患者，该疾病类似于胸膜实质纤维弹性组织增生症、肝硬化和骨髓改变。基因检测发现（端粒酶逆转录酶）基因存在罕见的杂合编码变异，即c.472 C>T；p.(Leu158Phe)，端粒长度检测显示端粒显著缩短，支持端粒生物学障碍（TBD）的诊断。
TBD是间质性肺病（ILD）的一个未被充分认识的病因。它是一种异质性疾病，可影响不同器官，包括肺、肝和骨髓。ILD的基因检测对于早期诊断、风险评估和家族筛查至关重要。识别这种变异能够对亲属进行针对性的基因检测，从而采取预防措施和调整生活方式。
