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Original Article



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

BÜLENT YAPRAK,HÜLYA ALADAĞ,MURAT ALADAĞ.




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.

Key words: Gaucher disease, SARS-CoV-2, immune activation






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