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一名患有多囊肾病的13号染色体三体嵌合体患者感染新型冠状病毒肺炎。

COVID-19 in a mosaic trisomy 13 patient with polycystic kidney disease.

作者信息

Ost Natalie K, Minchew Heather M, Garcia Andrew, Ganatra Hammad A

机构信息

Children's Mercy Hospital, Kansas City, MO, USA.

School of Medicine, University of Kansas, Kansas City, KS, USA.

出版信息

SAGE Open Med Case Rep. 2022 Aug 17;10:2050313X221118732. doi: 10.1177/2050313X221118732. eCollection 2022.

Abstract

Presentation, management, and outcomes of COVID-19 infections among younger patients is an area of medicine with deficits in research, likely due to the lower incidence of severe COVID-19 disease among the younger population. Management can be challenging, and clinicians often guide their decision-making based on the ever-changing protocols that are tailored mostly to the elderly population. Even more underrepresented in COVID-19 research are patients with chromosomal abnormalities and trisomy syndromes, as they appear less frequently, but have risk of increased morbidity and mortality due to underlying medical conditions. We describe a case of severe COVID-19 infection in a young patient with mosaic trisomy 13 and pre-existing polycystic kidney disease, who developed severe acute hypoxic respiratory failure and acute chronic kidney injury. The patient was provided maximal pharmacological support and her clinical course helps to shape the understanding of COVID-19 infections in the setting of chromosomal abnormalities and complex medical history.

摘要

年轻患者中新冠病毒感染的临床表现、管理及预后是医学研究存在不足的领域,这可能是由于年轻人群中重症新冠疾病的发病率较低。管理可能具有挑战性,临床医生通常根据主要针对老年人群量身定制的不断变化的方案来指导决策。在新冠病毒研究中,染色体异常和三体综合征患者的代表性更低,因为他们出现的频率较低,但由于潜在的医疗状况,发病和死亡风险增加。我们描述了一例患有嵌合型13三体和既往多囊肾病的年轻患者发生重症新冠病毒感染的病例,该患者出现了严重急性缺氧性呼吸衰竭和急性慢性肾损伤。患者接受了最大程度的药物支持,其临床病程有助于加深对染色体异常和复杂病史背景下新冠病毒感染的理解。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/323a/9393921/c127dba1e12b/10.1177_2050313X221118732-fig1.jpg

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