Laboratory of Cell and Molecular Tumor Biology and Bioactive Compounds, São Francisco University, Bragança Paulista, SP, Brazil; Laboratory of Human and Medical Genetics, São Francisco University, Bragança Paulista, SP, Brazil.
Laboratory of Cell and Molecular Tumor Biology and Bioactive Compounds, São Francisco University, Bragança Paulista, SP, Brazil; Laboratory of Human and Medical Genetics, São Francisco University, Bragança Paulista, SP, Brazil.
Respir Investig. 2023 Jul;61(4):460-466. doi: 10.1016/j.resinv.2023.04.001. Epub 2023 Apr 28.
We described the characteristics of 18 patients with coronavirus disease (COVID)-19 and X-linked disorders in a cohort of 2,066,678 Brazilian patients hospitalized due to COVID-19. The patients were diagnosed with Hemophilia B (one patient), Klinefelter syndrome [eight patients- three deaths occurred, one unrelated to Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) infection], and Turner syndrome (nine patients- two patients died). Half of the patients with X-linked disorders and COVID-19 (9/18) were male, the age varied from 1 to 71 years, and most patients were White (9/12; six patients had missing data). The most common symptoms were cough (13/17; one patient had missing data) and fever (12/16; two patients had missing data), whereas the most common comorbidities were diabetes mellitus (3/11; seven patients had missing data) and cardiopathy (2/12; six patients had missing data). Nearly half of the patients needed intensive care unit (8/17; one patient had missing data), and a quarter required invasive mechanical ventilation (4/16; two patients had missing data). Our study accounted for a total of five deaths, one unrelated to COVID-19. There may be several reasons for the low number of X-linked patients found in our data, such as limited access to genetic diagnosis tools causing underdiagnosis and a lack of knowledge by health professionals to identify the necessity of a genetic diagnosis or even forgetting to fill in the Brazilian database for hospitalization due to severe acute respiratory syndrome.
我们描述了在巴西因 COVID-19 住院的 2066678 名患者中,18 名患有冠状病毒病(COVID-19)和 X 连锁疾病患者的特征。这些患者被诊断患有乙型血友病(1 名患者)、克莱恩费尔特综合征(8 名患者 - 3 名死亡,1 例与严重急性呼吸综合征冠状病毒 2 无关)和特纳综合征(9 名患者 - 2 名死亡)。X 连锁疾病和 COVID-19 患者的一半(9/18)为男性,年龄从 1 岁到 71 岁不等,大多数患者为白人(9/12;6 名患者数据缺失)。最常见的症状是咳嗽(13/17;1 名患者数据缺失)和发热(12/16;2 名患者数据缺失),而最常见的合并症是糖尿病(3/11;7 名患者数据缺失)和心脏病(2/12;6 名患者数据缺失)。近一半的患者需要重症监护病房(8/17;1 名患者数据缺失),四分之一的患者需要有创机械通气(4/16;2 名患者数据缺失)。我们的研究共报告了 5 例死亡,1 例与 COVID-19 无关。我们的数据中 X 连锁患者数量较少可能有几个原因,例如获得遗传诊断工具的机会有限导致诊断不足,以及卫生专业人员缺乏识别进行遗传诊断的必要性的知识,甚至忘记填写巴西因严重急性呼吸综合征而住院的数据库。