脱氧鸟苷激酶缺乏与复发性自发性气胸：病例报告。
Deoxyguanosine kinase deficiency and recurrent spontaneous pneumothorax: a case report.
机构信息
Division of Paediatric Gastroenterology and Hepatology, Department of Paediatrics, Cliniques Universitaires Saint-Luc, Université catholique de Louvain, Brussels, Belgium.
Division of Cardiothoracic Surgery, Department of Surgery, Cliniques Universitaires Saint-Luc, Université catholique de Louvain, Brussels, Belgium.
出版信息
J Med Case Rep. 2023 Sep 30;17(1):413. doi: 10.1186/s13256-023-04151-1.
BACKGROUND
Deoxyguanosine kinase deficiency is mainly manifested by hepatic and neurological damage, hence it belongs to the hepatocerebral form of mitochondrial deoxyribonucleic acid depletion syndrome. The association between deoxyguanosine kinase deficiency and recurrent spontaneous pneumothorax has not currently been reported.
CASE PRESENTATION
A 12-year-old Russian boy with deoxyguanosine kinase deficiency, a recipient of a liver transplant with amyotrophy secondary to his mitochondriopathy, presented with recurrent spontaneous bilateral pneumothorax refractory to drainage and surgery.
CONCLUSION
To our knowledge, this is the first documented case of deoxyguanosine kinase deficiency associated with recurrent spontaneous pneumothorax, which could be considered a late complication of deoxyguanosine kinase deficiency. At this point, this is only an association and further studies and research need to be performed to help confirm the pathogenesis of this association.
背景
脱氧鸟苷激酶缺乏症主要表现为肝和神经损伤，因此属于线粒体脱氧核糖核酸耗竭综合征的肝脑型。脱氧鸟苷激酶缺乏症与复发性自发性气胸之间的关联目前尚未报道。
病例介绍
一名 12 岁俄罗斯男孩患有脱氧鸟苷激酶缺乏症，因线粒体病继发肌萎缩而行肝移植，出现复发性双侧自发性气胸，引流和手术均无效。
结论
据我们所知，这是首例有文献记录的脱氧鸟苷激酶缺乏症与复发性自发性气胸相关的病例，可被认为是脱氧鸟苷激酶缺乏症的晚期并发症。目前，这只是一种关联，需要进一步的研究和调查来帮助确认这种关联的发病机制。
Zotero 插件