端粒酶逆转录酶(TERT)基因致病变异婴儿的超早期弥漫性肺病

IF 0.5 4区 医学 Q4 GENETICS & HEREDITY
Balkan Journal of Medical Genetics Pub Date : 2024-09-06 eCollection Date: 2024-06-01 DOI:10.2478/bjmg-2024-0008
J Visekruna, M Basa, T Grba, M Andjelkovic, S Pavlovic, N Nathan, A Sovtic
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引用次数: 0

摘要

端粒酶逆转录酶(TERT)基因中的致病变体已在成人特发性肺纤维化患者中被发现,但它们与儿童弥漫性肺病的关系尚未被描述。在本研究中,我们介绍了一例五个月大的婴儿,该婴儿之前身体健康,但早期出现呼吸衰竭。根据临床和影像学表现,临床怀疑该病例为巨细胞病毒(CMV)肺炎引发的弥漫性肺部疾病。多器官受累尚未得到证实。考虑到巨细胞病毒性肺炎与早发呼吸衰竭之间可能存在联系,该患者接受了临床外显子组测序,并在 TERT 基因(c.280A>T, p.Lys94Ter)中检测到一个可能致病的新型变异。在分离分析得出阴性结果后,确认了该变异体的新生状态。呼吸支持、抗病毒和抗炎治疗带来了些许益处,然而,在最初发病 18 个月后,出现了不利的结果。总之,重症病毒性肺炎有可能诱发极其罕见的早发性弥漫性肺部疾病,并伴有慢性呼吸功能不全。这与 TERT 基因的致病变异有关。我们对该患者的全面介绍有助于深入了解早发呼吸衰竭病例中遗传因素、临床表现和治疗结果之间错综复杂的相互作用。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Ultra-Early Diffuse Lung Disease in an Infant with Pathogenic Variant in Telomerase Reverse Transcriptase (TERT) Gene.

The pathogenic variants in the telomerase reverse transcriptase (TERT) gene have been identified in adults with idiopathic pulmonary fibrosis, while their connection to childhood diffuse lung disease has not yet been described. Within this study, we present a case of a five-month-old, previously healthy infant, with early-onset respiratory failure. The clinical suspicion of diffuse lung disease triggered by cytomegalovirus (CMV) pneumonitis was based on clinical and radiological presentation. Multiorgan involvement was not confirmed. Considering the possible connection between CMV pneumonitis and early-onset respiratory failure, clinical exome sequencing was performed and a novel variant, classified as likely pathogenic in the TERT gene (c.280A>T, p.Lys94Ter) was detected. After segregation analysis yielded negative results, the de novo status of the variant was confirmed. Respiratory support, antiviral and anti-inflammatory therapy offered modest benefits, nevertheless, eighteen months after the initial presentation of disease, an unfavourable outcome occurred. In conclusion, severe viral pneumonia has the potential to induce extremely rare early-onset diffuse lung disease accompanied by chronic respiratory insufficiency. This is linked to pathogenic variants in the TERT gene. Our comprehensive presentation of the patient contributes to valuable insights into the intricate interplay of genetic factors, clinical presentations, and therapeutic outcomes in cases of early-onset respiratory failure.

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来源期刊
CiteScore
1.00
自引率
0.00%
发文量
0
审稿时长
>12 weeks
期刊介绍: Balkan Journal of Medical Genetics is a journal in the English language for publication of articles involving all branches of medical genetics: human cytogenetics, molecular genetics, clinical genetics, immunogenetics, oncogenetics, pharmacogenetics, population genetics, genetic screening and diagnosis of monogenic and polygenic diseases, prenatal and preimplantation genetic diagnosis, genetic counselling, advances in treatment and prevention.
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