Department of Medical Genomics, Centre for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.
Department of Medical Genomics, Centre for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Eur J Med Genet. 2022 Nov;65(11):104602. doi: 10.1016/j.ejmg.2022.104602. Epub 2022 Aug 30.
Patients with certain inherited metabolic disorders (IMD) are at high risk for metabolic decompensation with exposure to infections. The COVID-19 pandemic has been particularly challenging for health care providers dealing with IMD patients, in view of its unpredictable consequences in these patients. There is limited data in literature on evaluating the impact and the outcome of COVID-19 infection in these patients. This cross-sectional retrospective study on a large cohort of unvaccinated IMD patients, reviewed the incidence of COVID-19 infection, disease manifestation and outcome during the pandemic between November 2019 and July 2021. In this cohort of 1058 patients, 11.7% (n = 124) were infected with COVID-19. Their median age was 16 years (age range 2-42); 57% (n = 71) were males. Post-exposure positive test was noted in 78% (n = 97) patients, while 19% (n = 24) had symptomatic diagnosis and three patients tested positive during pre-hospital visits screening. Most patients, 68.5% (n = 85) had mild COVID-19 related symptoms such as fever, cough, headache and diarrhea while 13.7% (n = 17) patients had no symptoms. Of twenty-two patients (17.7%) who required hospitalization, 16 were adults with various intoxication and energy metabolism disorders, who developed IMD related complications such as metabolic acidosis, hyperammonemia, acute pancreatitis, hypoglycemia, rhabdomyolysis and thrombosis. Ten patients needed intensive care management. The cohort death rate was 2.4% (3 patients). Overall, the clinical course of COVID-19 infection in these IMD patients was relatively mild except for patients with intoxication and energy metabolism disorders who had high risk of developing acute metabolic decompensation with severe complications.
患有某些遗传性代谢疾病（IMD）的患者在接触感染时，代谢失代偿的风险很高。鉴于 COVID-19 对这些患者的不可预测后果，该大流行对处理 IMD 患者的医疗保健提供者来说是一个特别具有挑战性的问题。文献中关于评估这些患者 COVID-19 感染的影响和结果的数据有限。本研究对一大群未接种疫苗的 IMD 患者进行了横断面回顾性研究，回顾了 2019 年 11 月至 2021 年 7 月大流行期间 COVID-19 感染的发病率、疾病表现和结果。在这 1058 名患者中，11.7%（n=124）感染了 COVID-19。他们的中位年龄为 16 岁（年龄范围 2-42 岁）；57%（n=71）为男性。78%（n=97）的患者在暴露后检测呈阳性，而 19%（n=24）有症状诊断，3 名患者在院前就诊筛查时检测呈阳性。大多数患者，68.5%（n=85）有轻度 COVID-19 相关症状，如发热、咳嗽、头痛和腹泻，而 13.7%（n=17）的患者无症状。在需要住院治疗的 22 名患者（17.7%）中，16 名成年人患有各种中毒和能量代谢紊乱，出现 IMD 相关并发症，如代谢性酸中毒、高血氨血症、急性胰腺炎、低血糖、横纹肌溶解症和血栓形成。10 名患者需要重症监护管理。该队列的死亡率为 2.4%（3 名患者）。总体而言，这些 IMD 患者的 COVID-19 感染临床过程相对较轻，除了中毒和能量代谢紊乱患者外，这些患者发生急性代谢失代偿和严重并发症的风险较高。
