PDF(Pubmed)
Abstract：
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.
METHODS: 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.
CONCLUSIONS: 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.
METHODS: 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.
CONCLUSIONS: 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.
摘要：
背景：脱氧鸟苷激酶缺乏主要表现为肝和神经损害，因此，它属于线粒体脱氧核糖核酸耗竭综合征的肝脑形式。脱氧鸟苷激酶缺乏与复发性自发性气胸之间的关联目前尚未报道。
方法：一名12岁的俄罗斯男孩，患有脱氧鸟苷激酶缺乏症，接受肝移植手术的人伴有线粒体病继发的肌萎缩,表现为复发性自发性双侧气胸，难以引流和手术。
结论：据我们所知，这是首例有记录的脱氧鸟苷激酶缺乏与复发性自发性气胸相关的病例，这可能被认为是脱氧鸟苷激酶缺乏症的晚期并发症。在这一点上,这只是一种关联,需要进行进一步的研究和研究以帮助确认这种关联的发病机制.
方法：一名12岁的俄罗斯男孩，患有脱氧鸟苷激酶缺乏症，接受肝移植手术的人伴有线粒体病继发的肌萎缩,表现为复发性自发性双侧气胸，难以引流和手术。
结论：据我们所知，这是首例有记录的脱氧鸟苷激酶缺乏与复发性自发性气胸相关的病例，这可能被认为是脱氧鸟苷激酶缺乏症的晚期并发症。在这一点上,这只是一种关联,需要进行进一步的研究和研究以帮助确认这种关联的发病机制.
