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因冠状病毒病(COVID)-19住院的成骨不全症患者的人口统计学和临床特征:来自巴西的13例病例系列。

Demographic and Clinical Profile of Patients with Osteogenesis Imperfecta Hospitalized Due to Coronavirus Disease (COVID)-19: A Case Series of 13 Patients from Brazil.

作者信息

Morikawa Luana Lury, Marques Luiz Felipe Azevedo, Silva Adriele Evelyn Ferreira, Costa Patrícia Teixeira, Mello Lucas Silva, Fraga Andrea de Melo Alexandre, Marson Fernando Augusto Lima

机构信息

Faculty of Medicine, Nove de Julho University (UNINOVE, Which Stands for the Portuguese Universidade Nove de Julho), Guarulhos 07013-110, SP, Brazil.

Laboratory of Molecular Biology and Genetics, Postgraduate Program of Health Sciences, São Francisco University (USF, Which Stands for the Portuguese Universidade São Francisco), Bragança Paulista 12916-900, SP, Brazil.

出版信息

Healthcare (Basel). 2025 Jul 23;13(15):1779. doi: 10.3390/healthcare13151779.

DOI:10.3390/healthcare13151779
PMID:40805812
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12346432/
Abstract

Osteogenesis imperfecta (OI) is a rare genetic connective tissue disorder characterized by bone fragility, most often caused by pathogenic variants in type I collagen genes. In this context, we aimed to describe the clinical and epidemiological characteristics of patients with OI who were hospitalized for coronavirus disease (COVID)-19 in Brazil between 2020 and 2024. We conducted a retrospective descriptive analysis using data from the Brazilian Unified Health System (SUS, which stands for the Portuguese ) through the Open-Data-SUS platform. Patients with a confirmed diagnosis of OI and hospitalization due to COVID-19 were included. Descriptive statistical analysis was performed to evaluate demographic, clinical, and outcome-related variables. We included all hospitalized COVID-19 cases with a confirmed diagnosis of OI between 2020 and 2024. Thirteen hospitalized patients with OI and COVID-19 were identified. Most were adults (9; 69.2%), male (7; 53.8%), self-identified as White (9; 69.2%), and all were residents of urban areas (13; 100.0%). The most frequent symptoms were fever (10; 76.9%), cough (9; 69.2%), oxygen desaturation (9; 69.2%), dyspnea (8; 61.5%), and respiratory distress (7; 53.8%). Two patients had heart disease, one had chronic lung disease, and one was obese. As for vaccination status, five patients (38.5%) had been vaccinated against severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). Four patients (30.8%) required admission to an intensive care unit (ICU), and six (46.2%) required noninvasive ventilatory support. Among those admitted to the ICU, only two required invasive mechanical ventilation. The clinical outcome was death in two cases (15.4%). Both patients were male, White, and had not been vaccinated against SARS-CoV-2. One was 47 years old, was not admitted to the ICU, but required noninvasive ventilation. Despite the underlying condition most patients had favorable outcomes, consistent with an international report. This is the first report to describe the clinical and epidemiological profile of patients with OI hospitalized for COVID-19 in Brazil, providing initial insights into how a rare bone disorder intersects with an acute respiratory infection. The generally favorable outcomes observed-despite the underlying skeletal fragility-suggest that individuals with OI are not necessarily at disproportionate risk of severe COVID-19, particularly when appropriately monitored. The occurrence of deaths only among unvaccinated patients underscores the critical role of SARS-CoV-2 vaccination in this population. Although pharmacological treatment data were unavailable, the potential protective effects of bisphosphonates and vitamin D merit further exploration. These findings support the need for early preventive strategies, systematic vaccination efforts, and dedicated clinical protocols for rare disease populations during infectious disease outbreaks.

摘要

成骨不全症(OI)是一种罕见的遗传性结缔组织疾病,其特征为骨骼脆弱,最常见的病因是I型胶原蛋白基因的致病性变异。在此背景下,我们旨在描述2020年至2024年期间在巴西因冠状病毒病(COVID)-19住院的成骨不全症患者的临床和流行病学特征。我们通过开放数据SUS平台,利用巴西统一卫生系统(SUS,葡萄牙语缩写)的数据进行了一项回顾性描述性分析。纳入确诊为成骨不全症且因COVID-19住院的患者。进行描述性统计分析以评估人口统计学、临床和与结局相关的变量。我们纳入了2020年至2024年期间所有确诊为成骨不全症且因COVID-19住院的病例。确定了13例同时患有成骨不全症和COVID-19的住院患者。大多数为成年人(9例;69.2%),男性(7例;53.8%),自我认定为白人(9例;69.2%),且均为城市居民(13例;100.0%)。最常见的症状为发热(10例;76.9%)、咳嗽(9例;69.2%)、氧饱和度下降(9例;69.2%)、呼吸困难(8例;61.5%)和呼吸窘迫(7例;53.8%)。2例患者患有心脏病,1例患有慢性肺病,1例肥胖。至于疫苗接种状况,5例患者(38.5%)接种了严重急性呼吸综合征冠状病毒2(SARS-CoV-2)疫苗。4例患者(30.8%)需要入住重症监护病房(ICU),6例(46.2%)需要无创通气支持。在入住ICU的患者中,只有2例需要有创机械通气。临床结局为2例死亡(15.4%)。这2例患者均为男性、白人,且未接种SARS-CoV-2疫苗。1例47岁,未入住ICU,但需要无创通气。尽管存在基础疾病,但大多数患者预后良好,这与一份国际报告一致。这是第一份描述巴西因COVID-19住院的成骨不全症患者临床和流行病学特征的报告,为一种罕见的骨骼疾病与急性呼吸道感染如何相互影响提供了初步见解。尽管存在潜在的骨骼脆弱性,但观察到的总体良好预后表明,成骨不全症患者不一定面临更高的重症COVID-19风险,尤其是在得到适当监测的情况下。仅在未接种疫苗的患者中出现死亡病例,凸显了SARS-CoV-2疫苗接种在该人群中的关键作用。尽管无法获得药物治疗数据,但双膦酸盐和维生素D的潜在保护作用值得进一步探索。这些发现支持在传染病暴发期间,针对罕见病患者群体制定早期预防策略、系统性疫苗接种措施和专门的临床方案的必要性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fe1f/12346432/4c1290b3cada/healthcare-13-01779-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fe1f/12346432/4c1290b3cada/healthcare-13-01779-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fe1f/12346432/4c1290b3cada/healthcare-13-01779-g001.jpg

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