婴儿的超早期扩散性肺部疾病,其病原性变体是端粒酶逆转录酶 (TERT) 基因
J Visekruna1, M Basa1, T Grba1
1Department of Pulmonology, Mother and Child Health Institute of Serbia, Belgrade, Serbia.
Balkan journal of medical genetics : BJMG
|September 12, 2024
概括
端粒酶逆转录酶 (TERT) 基因的致病变体与婴儿的罕见,早期发病的扩散性肺病有关,即使是在严重的病毒性肺炎之后. 这一案例凸显了遗传因素在儿童呼吸衰竭中的关键作用.
科学领域:
- 儿科肺病学 儿科肺病学
- 医学遗传学 医学遗传学
- 分子生物学分子生物学
背景情况:
- 端粒酶逆转录酶 (TERT) 基因中的致病变体与成人异常性肺纤维化有关.
- 在儿童扩散性肺病中TERT基因变异的作用仍然在很大程度上未被描述.
研究的目的:
- 研究TERT基因变异与婴儿早期呼吸衰竭之间的潜在联系.
- 描述一种严重的病毒性肺炎病例,有可能在幼儿中引发扩散性肺病.
主要方法:
- 临床外体序列测序是在一个出现呼吸衰竭的五个月大的婴儿身上进行的.
- 进行了分离分析,以确认已识别的TERT基因变异的de novo状态.
主要成果:
- 在TERT基因中发现了一种新的,可能致病的de novo变异 (c.280A>T,p.Lys94Ter).
- 婴儿经历了不利的结果,尽管呼吸支持和抗病毒/抗炎疗法.
结论:
- 严重的病毒性肺炎可能会在患有致病性TERT基因变异的婴儿中导致极其罕见的早期发病的扩散性肺病.
- 这一案例强调了儿科呼吸衰竭中遗传倾向和临床表现之间的复杂相互作用.
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