Viral respiratory tract infection in Gaucher disease, a rare disease: A case study of 24 patients in Malatya-Turkey

A. M. Res, B. Yaprak, H. Aladag, M. Aladağ
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Abstract

People with chronic diseases have a higher rate of morbidity and mortality from SARS-CoV-2 infection. A rare lysosomal storage disease is Gaucher disease. Chronic myeloid cell immune activation is caused by a decline in acid -glucosidase activity and an accumulation of inflammatory glycosphingolipids in Gaucher disease. Unknown is how SARS-CoV-2 affects rare disease populations like Gaucher disease. Myeloid cell immune activation in Gaucher's disease may predispose to severe effects of this infection. The only study conducted in Turkey so far is this one. People with chronic diseases have a higher rate of morbidity and mortality from SARS-CoV-2 infection. A rare lysosomal storage disease is Gaucher disease. Chronic myeloid cell immune activation is caused by a decline in acid -glucosidase activity and an accumulation of inflammatory glycosphingolipids in Gaucher disease. Unknown is how SARS-CoV-2 affects rare disease populations like Gaucher disease. Myeloid cell immune activation in Gaucher's disease may predispose to severe effects of this infection. The only study conducted in Turkey so far is this one. Eight of our patients reported having contact with someone who had COVID-19 infection or was suspected of having the infection, and in three of these cases (37.5%) the patient reported having at least one symptom of infection. Out of the 18 patients who were tested, 4 (22.2%) had a positive result. Positive test results were associated with more symptoms in patients (3.8 vs 0.3, p0.001) than negative test results. In Gaucher patients, symptoms or positive test results were not correlated with age, gender, BMI, comorbidity, genotype, previous splenectomy, or enzyme replacement therapy. All of our patients only received supportive care; none of them required intensive care or specialized treatment. Our research revealed that there was a low risk of serious side effects in other chronic patients following SARS-CoV-2 infection in Gaucher patients. In this regard, studies with larger case series are required.
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戈谢病是一种罕见的疾病,病毒性呼吸道感染:土耳其马拉提亚24例患者的病例研究
慢性疾病患者感染SARS-CoV-2的发病率和死亡率较高。戈谢病是一种罕见的溶酶体贮积病。慢性髓细胞免疫激活是由酸性-葡萄糖苷酶活性下降和炎症鞘糖脂积累引起的。目前尚不清楚SARS-CoV-2如何影响戈谢病等罕见疾病人群。髓细胞免疫激活在戈谢病可能倾向于严重影响这种感染。到目前为止,在土耳其进行的唯一研究是这个。慢性疾病患者感染SARS-CoV-2的发病率和死亡率较高。戈谢病是一种罕见的溶酶体贮积病。慢性髓细胞免疫激活是由酸性-葡萄糖苷酶活性下降和炎症鞘糖脂积累引起的。目前尚不清楚SARS-CoV-2如何影响戈谢病等罕见疾病人群。髓细胞免疫激活在戈谢病可能倾向于严重影响这种感染。到目前为止,在土耳其进行的唯一研究是这个。我们的8名患者报告与COVID-19感染者或疑似感染者有过接触,其中3例(37.5%)患者报告至少有一种感染症状。在接受检查的18名患者中,4名(22.2%)呈阳性。与阴性检测结果相比,阳性检测结果与更多患者症状相关(3.8 vs 0.3, p0.001)。戈谢病患者的症状或阳性检测结果与年龄、性别、BMI、合并症、基因型、既往脾切除术或酶替代治疗无关。我们所有的病人都只接受支持性治疗;他们都不需要重症监护或专门治疗。我们的研究表明,戈歇患者感染SARS-CoV-2后,其他慢性患者发生严重副作用的风险较低。在这方面,需要更大规模的案例研究。
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