Visekruna J, Basa M, Grba T, Andjelkovic M, Pavlovic S, Nathan N, Sovtic A
Department of Pulmonology, Mother and Child Health Institute of Serbia, Belgrade, Serbia.
Institute of Molecular Genetics and Genetic Engineering, University of Belgrade, Belgrade, Serbia.
Balkan J Med Genet. 2024 Sep 6;27(1):59-63. doi: 10.2478/bjmg-2024-0008. eCollection 2024 Jun.
The pathogenic variants in the telomerase reverse transcriptase () 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 gene (c.280A>T, p.Lys94Ter) was detected. After segregation analysis yielded negative results, the 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 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.
端粒酶逆转录酶（）基因的致病变异已在患有特发性肺纤维化的成年人中得到鉴定，但其与儿童弥漫性肺疾病的关联尚未见报道。在本研究中，我们报告了一例5个月大、此前健康的婴儿，患有早发性呼吸衰竭。基于临床和影像学表现，临床怀疑由巨细胞病毒（CMV）肺炎引发弥漫性肺疾病。未证实有多器官受累。考虑到CMV肺炎与早发性呼吸衰竭之间可能的关联，进行了临床外显子组测序，并在基因中检测到一个新的变异，分类为可能致病（c.280A>T，p.Lys94Ter）。在分离分析得出阴性结果后，确认了该变异的状态。呼吸支持、抗病毒和抗炎治疗带来了适度益处，然而，在疾病首次出现18个月后，出现了不良结局。总之，严重病毒性肺炎有可能诱发极其罕见的早发性弥漫性肺疾病，并伴有慢性呼吸功能不全。这与基因中的致病变异有关。我们对该患者的全面介绍有助于深入了解早发性呼吸衰竭病例中遗传因素、临床表现和治疗结果之间的复杂相互作用。
