Klinik Araştırma
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Gaucher Hastalığı olan Olgularda SARS-CoV-2 enfeksiyonu

Yıl 2023, Cilt: 5 Sayı: 2, 231 - 6, 15.05.2023
https://doi.org/10.37990/medr.1139421

Öz

Kaynakça

  • 1. Fuller M, Meikle PJ, Hopwood JJ. Epidemiology of lysosomal storage diseases: an overview. In: Mehta A, Beck M, Sunder-Plassmann G, editors. Fabry Disease: Perspectives from 5 Years of FOS. Oxford: Oxford Pharma Genesis. 2006. Chapter 2. PMID: 21290699.
  • 2. Zimran A, Belmatoug N, Bembi B, et al; GOS Studygroup. Demographics and patient characteristics of 1209 patients with Gaucher disease: Descriptive analysis from the Gaucher Outcome Survey (GOS). Am J Hematol. 2018;93:205-12.
  • 3. Grabowski GA, Zimran A, Ida H. Gaucher disease types 1 and 3: Phenotypic characterization of large populations from the ICGG Gaucher Registry. Am J Hematol. 2015;90 Suppl 1:S12-8.
  • 4. Santoro D, Rosenbloom BE, Cohen AH. Gaucher disease with nephrotic syndrome: response to enzyme replacement therapy. Am J Kidney Dis 2002;40:E4.
  • 5. Mistry PK, Batista JL, Andersson HC, et al. Transformation in pretreatment manifestations of Gaucher disease type 1 during two decades of alglucerase/imiglucerase enzyme replacement therapy in the International Collaborative Gaucher Group (ICGG) Gaucher Registry. Am J Hematol 2017;92:929-39.
  • 6. Lukina E, Watman N, Dragosky M, et al. Outcomes after 8 years of eliglustat therapy for Gaucher disease type 1: Final results from the Phase 2 trial. Am J Hematol. 2019;94:29-38.
  • 7. Pandey MK, Grabowski GA, Köhl J. An unexpected player in Gaucher disease: The multiple roles of complement in disease development. Semin Immunol 2018;37:30-42.
  • 8. Pandey MK, Burrow TA, Rani R, et al. Complement drives glucosyl ceramide accumulation and tissue inflammation in Gaucher disease. Nature; 201;54:108-12.
  • 9.Silverstein E, Pertschuk LP, Friedland J. Immunofluorescent detection of angiotensin-converting enzyme (ACE) in Gaucher cells. Am J Med 1980;69:408-10.
  • 10. CDC COVID-19 Response Team. Severe outcomes among patients with coronavirus disease 2019 (COVID-19) - United States, February 12-March 16, 2020. MMWR Morb Mortal Wkly Rep 2020;69:343-346.
  • 11. McMichael TM, Currie DW, Clark S, et al; Public Health–Seattle and King County, Evergreen Health, and CDC COVID-19 Investigation Team. Epidemiology of Covid-19 in a Long-Term Care Facility in King County, Washington. N Engl J Med 2020;382:2005-11.
  • 12. Siddiqi HK, Mehra MR. COVID-19 illness in native and immunosuppressed states: A clinical-therapeutic staging proposal. J Heart Lung Transplant 2020;39:405-7.
  • 13. Gheblawi M, Wang K, Viveiros A, et al. Angiotensin-Converting Enzyme 2: SARS-CoV-2 Receptor and Regulator of the Renin-Angiotensin System: Celebratingthe 20th Anniversary of the Discovery of ACE2. Circ Res 2020;126:1456-74.
  • 14. Qi F, Qian S, Zhang S, Zhang Z. Singlecell RNA sequencing of 13 human tissues identify cell types and receptors of human coronaviruses. Biochem Biophys Res Commun 2020;526:135-40.
  • 15. Mehta P, McAuley DF, Brown M, Sanchez E, Tattersall RS, Manson JJ; HLH Across Speciality Collaboration, UK. COVID-19: consider cytokine storm syndromes and immunosuppression. Lancet 2020;395:1033-34.
  • 16.Chen G, Wu D, Guo W, et al. Clinical and immunological features of severe and moderate coronavirus disease 2019. J Clin Invest 2020;130:2620-29.
  • 17. Hamming I, Timens W, Bulthuis ML, Lely AT, Navis G, van Goor H. Tissue distribution of ACE2 protein, the functional receptorfor SARS coronavirus. A first step in understanding SARS pathogenesis. J Pathol 2004;203:631-7.
  • 18.Zheng YY, Ma YT, Zhang JY, Xie X. COVID-19 and the cardiovascular system. Nat Rev Cardiol 2020;17:259-60.
  • 19. Bellettato CM, Hubert L, Scarpa M, Wangler MF. Inborn errors of metabolism involving complex molecules: Lysosomal and peroxisomal storage diseases. Pediatr Clin North Am 2018;65:353-73.
  • 20. Solomon M, Muro S. Lysosomal enzyme replacement therapies: Historical development, clinical outcomes, and future perspectives. Adv Drug Deliv Rev 2017;118:109-34.
  • 21. Stirnemann J, Belmatoug N, Camou F, et al. A Review of Gaucher disease pathophysiology, clinical presentation and treatments. Int J Mol Sci. 2017;18:441.
  • 22. Dandana A, Ben Khelifa S, Chahed H, Miled A, Ferchichi S. Gaucher Disease: Clinical, biological and yherapeutic aspects. Pathobiology 2016;83:13-23.
  • 23. Zhu N, Zhang D, Wang W, et al; China Novel Coronavirus Investigating and Research Team. A novel coronavirus from patients with pneumonia in China, 2019. N Engl J Med 2020;382:727-33. 24. Andrade-Campos M, Escuder-Azuara B, de Frutos LL, Serrano-Gonzalo I, Giraldo P; GEEDL; FEETEG; AEEFEG. Direct and indirect effects of the SARS-CoV-2 pandemic on Gaucher Disease patients in Spain: Time to reconsider home-based therapies? Blood Cells Mol Dis 2020;85:102478.
  • 25. Sechi A, Macor D, Valent S, et al. Impact of COVID-19 related healthcare crisis on treatments for patients with lysosomal storage disorders, the first Italian experience. Mol Genet Metab 2020;130:170-71.

COVID-19 Infection in Patients with Gaucher Disease

Yıl 2023, Cilt: 5 Sayı: 2, 231 - 6, 15.05.2023
https://doi.org/10.37990/medr.1139421

Öz

Aim: Coronavirus disease 2019 (COVID-19) is a severe acute respiratory syndrome with a high mortality rate and has been labeled a global pandemic in March 2020. Gaucher Disease (GD) is one of the rare inherited lysosomal storage diseases (LSDs). We aimed to call attention to the frequency, susceptibility of COVID-19 infection, and the factors that prevent this infection in patients with GD as compared to other LSDs.
Material and Methods: The study was conducted retrospectively between September and December 2020. Participants were divided into two groups: GD group (19 patients) and the control group (19 patients, those with other LSDs). All patients were contacted by phone to collect data about their health status, and any possible contact with Covid-19 patients.
Results: Six of the GD patients (36.8%) had contacted a confirmed COVID-19 infected person but only three (15.8%) had developed a mild COVID-19 with fever and fatigue that did not require hospital admission. Four of the control group patients (21.1%) had experienced contact with a person with a confirmed COVID-19 infection. Three of the control group patients, that comprised of patients with various LSDs other than GD (15.8%) were positive on COVID-19 PCR tests and two of them had developed a mild COVID-19 infection. One of these (with Mucopolysaccharidosis type 1) had severe symptoms and required hospitalization.
Conclusion: There is no consensus on the management of rare diseases such as lysosomal storage diseases during the COVID-19 pandemic. Developing plans regarding the management of COVID-19 infections in LSDs will be useful when drawing up consensus guidelines.

Kaynakça

  • 1. Fuller M, Meikle PJ, Hopwood JJ. Epidemiology of lysosomal storage diseases: an overview. In: Mehta A, Beck M, Sunder-Plassmann G, editors. Fabry Disease: Perspectives from 5 Years of FOS. Oxford: Oxford Pharma Genesis. 2006. Chapter 2. PMID: 21290699.
  • 2. Zimran A, Belmatoug N, Bembi B, et al; GOS Studygroup. Demographics and patient characteristics of 1209 patients with Gaucher disease: Descriptive analysis from the Gaucher Outcome Survey (GOS). Am J Hematol. 2018;93:205-12.
  • 3. Grabowski GA, Zimran A, Ida H. Gaucher disease types 1 and 3: Phenotypic characterization of large populations from the ICGG Gaucher Registry. Am J Hematol. 2015;90 Suppl 1:S12-8.
  • 4. Santoro D, Rosenbloom BE, Cohen AH. Gaucher disease with nephrotic syndrome: response to enzyme replacement therapy. Am J Kidney Dis 2002;40:E4.
  • 5. Mistry PK, Batista JL, Andersson HC, et al. Transformation in pretreatment manifestations of Gaucher disease type 1 during two decades of alglucerase/imiglucerase enzyme replacement therapy in the International Collaborative Gaucher Group (ICGG) Gaucher Registry. Am J Hematol 2017;92:929-39.
  • 6. Lukina E, Watman N, Dragosky M, et al. Outcomes after 8 years of eliglustat therapy for Gaucher disease type 1: Final results from the Phase 2 trial. Am J Hematol. 2019;94:29-38.
  • 7. Pandey MK, Grabowski GA, Köhl J. An unexpected player in Gaucher disease: The multiple roles of complement in disease development. Semin Immunol 2018;37:30-42.
  • 8. Pandey MK, Burrow TA, Rani R, et al. Complement drives glucosyl ceramide accumulation and tissue inflammation in Gaucher disease. Nature; 201;54:108-12.
  • 9.Silverstein E, Pertschuk LP, Friedland J. Immunofluorescent detection of angiotensin-converting enzyme (ACE) in Gaucher cells. Am J Med 1980;69:408-10.
  • 10. CDC COVID-19 Response Team. Severe outcomes among patients with coronavirus disease 2019 (COVID-19) - United States, February 12-March 16, 2020. MMWR Morb Mortal Wkly Rep 2020;69:343-346.
  • 11. McMichael TM, Currie DW, Clark S, et al; Public Health–Seattle and King County, Evergreen Health, and CDC COVID-19 Investigation Team. Epidemiology of Covid-19 in a Long-Term Care Facility in King County, Washington. N Engl J Med 2020;382:2005-11.
  • 12. Siddiqi HK, Mehra MR. COVID-19 illness in native and immunosuppressed states: A clinical-therapeutic staging proposal. J Heart Lung Transplant 2020;39:405-7.
  • 13. Gheblawi M, Wang K, Viveiros A, et al. Angiotensin-Converting Enzyme 2: SARS-CoV-2 Receptor and Regulator of the Renin-Angiotensin System: Celebratingthe 20th Anniversary of the Discovery of ACE2. Circ Res 2020;126:1456-74.
  • 14. Qi F, Qian S, Zhang S, Zhang Z. Singlecell RNA sequencing of 13 human tissues identify cell types and receptors of human coronaviruses. Biochem Biophys Res Commun 2020;526:135-40.
  • 15. Mehta P, McAuley DF, Brown M, Sanchez E, Tattersall RS, Manson JJ; HLH Across Speciality Collaboration, UK. COVID-19: consider cytokine storm syndromes and immunosuppression. Lancet 2020;395:1033-34.
  • 16.Chen G, Wu D, Guo W, et al. Clinical and immunological features of severe and moderate coronavirus disease 2019. J Clin Invest 2020;130:2620-29.
  • 17. Hamming I, Timens W, Bulthuis ML, Lely AT, Navis G, van Goor H. Tissue distribution of ACE2 protein, the functional receptorfor SARS coronavirus. A first step in understanding SARS pathogenesis. J Pathol 2004;203:631-7.
  • 18.Zheng YY, Ma YT, Zhang JY, Xie X. COVID-19 and the cardiovascular system. Nat Rev Cardiol 2020;17:259-60.
  • 19. Bellettato CM, Hubert L, Scarpa M, Wangler MF. Inborn errors of metabolism involving complex molecules: Lysosomal and peroxisomal storage diseases. Pediatr Clin North Am 2018;65:353-73.
  • 20. Solomon M, Muro S. Lysosomal enzyme replacement therapies: Historical development, clinical outcomes, and future perspectives. Adv Drug Deliv Rev 2017;118:109-34.
  • 21. Stirnemann J, Belmatoug N, Camou F, et al. A Review of Gaucher disease pathophysiology, clinical presentation and treatments. Int J Mol Sci. 2017;18:441.
  • 22. Dandana A, Ben Khelifa S, Chahed H, Miled A, Ferchichi S. Gaucher Disease: Clinical, biological and yherapeutic aspects. Pathobiology 2016;83:13-23.
  • 23. Zhu N, Zhang D, Wang W, et al; China Novel Coronavirus Investigating and Research Team. A novel coronavirus from patients with pneumonia in China, 2019. N Engl J Med 2020;382:727-33. 24. Andrade-Campos M, Escuder-Azuara B, de Frutos LL, Serrano-Gonzalo I, Giraldo P; GEEDL; FEETEG; AEEFEG. Direct and indirect effects of the SARS-CoV-2 pandemic on Gaucher Disease patients in Spain: Time to reconsider home-based therapies? Blood Cells Mol Dis 2020;85:102478.
  • 25. Sechi A, Macor D, Valent S, et al. Impact of COVID-19 related healthcare crisis on treatments for patients with lysosomal storage disorders, the first Italian experience. Mol Genet Metab 2020;130:170-71.
Toplam 24 adet kaynakça vardır.

Ayrıntılar

Birincil Dil İngilizce
Konular İç Hastalıkları
Bölüm Özgün Makaleler
Yazarlar

Burcu Civelek Ürey 0000-0001-7202-5897

Çiğdem Seher Kasapkara 0000-0002-3569-276X

Aslı İnci 0000-0001-5446-4140

Mehmet Gündüz 0000-0002-6005-5623

Aslınur Özkaya Parlakay 0000-0001-5691-2461

Leyla Tumer 0000-0002-7831-3184

Asburce Olgac 0000-0002-4989-221X

Erken Görünüm Tarihi 15 Mayıs 2023
Yayımlanma Tarihi 15 Mayıs 2023
Kabul Tarihi 1 Mart 2023
Yayımlandığı Sayı Yıl 2023 Cilt: 5 Sayı: 2

Kaynak Göster

AMA Civelek Ürey B, Kasapkara ÇS, İnci A, Gündüz M, Özkaya Parlakay A, Tumer L, Olgac A. COVID-19 Infection in Patients with Gaucher Disease. Med Records. Mayıs 2023;5(2):231-6. doi:10.37990/medr.1139421

 Chief Editors

Assoc. Prof. Zülal Öner
Address: İzmir Bakırçay University, Department of Anatomy, İzmir, Turkey

Assoc. Prof. Deniz Şenol
Address: Düzce University, Department of Anatomy, Düzce, Turkey

E-mail: medrecsjournal@gmail.com

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