脱氧氨酸激酶缺乏和复发性自发性肺胸部:一个病例报告
Alice Ramboux1, Alain Poncelet2, Philippe Clapuyt3
1Division of Paediatric Gastroenterology and Hepatology, Department of Paediatrics, Cliniques Universitaires Saint-Luc, Université catholique de Louvain, Brussels, Belgium. alice.ramboux@uclouvain.be.
Journal of medical case reports
|September 29, 2023
概括
脱氧氨酸激酶缺乏症是一种罕见的线粒体疾病,现在与复发的自发性肺胸病有关. 这一案例突出了这种严重遗传疾病的潜在新并发症.
科学领域:
- 线粒体医学 线粒体医学
- 遗传学 是一个遗传学.
- 肺部病理学 肺部病理学
背景情况:
- 脱氧氨酸激酶 (DGUOK) 缺乏症是一种线粒体DNA枯竭综合征,主要导致肝脏和神经损伤.
- 它被归类为线粒体疾病的肝脑形式.
- 与肺部并发症 (如肺胸炎) 的相关性以前没有被记录.
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