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严重急性呼吸综合征冠状病毒 2 感染丙酸血症患者

SARS-CoV-2 infection in a patient with propionic acidemia.

机构信息

Molecular and Cell Biology Laboratory, Paediatric Neurology Unit and Laboratories, Neuroscience Department, A. Meyer Children's Hospital, Viale Pieraccini n. 24, 50139, Florence, Italy.

Metabolic and Muscular Unit, A. Meyer Children's Hospital, Florence, Italy.

出版信息

Orphanet J Rare Dis. 2020 Oct 28;15(1):306. doi: 10.1186/s13023-020-01563-w.

Abstract

We describe a 14-month-old boy, with a previous diagnosis of propionic acidemia (PA) by expanded newborn screening, who, admitted for a suspected metabolic crisis, tested positive for SARS-CoV-2. Since propionic acidemia was diagnosed, the patient has followed the recommended diet for this inborn error of metabolism. Although propionic acidemia patients are at a high risk of suffering metabolic crises, frequently associated with permanent clinical complications, psychomotor development of this patient was normal. The SARS-CoV-2 infection (at about 1 year of age) caused the patient's first metabolic crisis. However, his clinical course was in keeping with a mild clinical form of COVID-19, and he recovered without experiencing severe clinical consequences. We describe this patient in order to improve the knowledge about follow up of PA patients identified by newborn screening and to increase the limited number of reports of SARS-CoV-2 infection in children with comorbidities, especially inborn errors of metabolism.

摘要

我们描述了一名 14 个月大的男孩,曾通过扩大的新生儿筛查诊断为丙酸血症(PA),因疑似代谢危象入院,新冠病毒检测呈阳性。自丙酸血症确诊以来,患儿一直遵循这种遗传性代谢缺陷的推荐饮食。尽管丙酸血症患儿有发生代谢危象的高风险,且常伴有永久性临床并发症,但该患儿的精神运动发育正常。新冠病毒感染(约 1 岁时)导致患儿首次发生代谢危象。然而,他的临床过程与 COVID-19 的轻度临床形式一致,且未出现严重临床后果而康复。我们描述这名患儿的情况,旨在提高对通过新生儿筛查发现的丙酸血症患儿的随访知识,并增加患有合并症(尤其是遗传性代谢缺陷)儿童中新冠病毒感染的有限报告数量。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a4da/7592524/762755eca1a1/13023_2020_1563_Fig1_HTML.jpg

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