Severe manifestations and treatment of COVID-19 in a transplanted patient with Fabry disease
| Autor: | Virginia Kimonis, Joaquin Ponce Zepeda, Ryan Mahoney, Grace Lee, Kathy Hall, Christopher Gabriel, Robert Edwards |
|---|---|
| Rok vydání: | 2021 |
| Předmět: |
Medicine (General)
medicine.medical_specialty Kidney Disease QH301-705.5 Interstitial nephritis medicine.medical_treatment Renal and urogenital Case Report Disease Neurodegenerative Cardiovascular Gastroenterology R5-920 Rare Diseases Endocrinology Internal medicine Migalastat Diabetes mellitus Genetics medicine Aspergillosis Biology (General) Kidney transplant Molecular Biology Dialysis Fabry disease Transplantation Kidney business.industry COVID-19 Pneumonia Enzyme replacement therapy medicine.disease Heart Disease Good Health and Well Being medicine.anatomical_structure Cytokines Biochemistry and Cell Biology business |
| Zdroj: | Molecular Genetics and Metabolism Reports, Vol 29, Iss, Pp 100802-(2021) Molecular Genetics and Metabolism Reports |
| ISSN: | 2214-4269 |
| Popis: | Fabry disease is an X linked disease caused by pathogenic variants in the GLA gene. The cardiovascular and renal systems are most affected in Fabry patients and may require heart or kidney transplants in the late stages of the disease depending on severity of manifestations. Enzyme replacement therapy (ERT) has proven to delay progression of Fabry disease considerably, especially when started early in life. Current research has shown that individuals who have received cardiac or renal transplants or are currently on dialysis have the greatest probability of developing severe manifestations of COVID-19. It has also been shown that people who contract COVID-19 experience a rapid increase in cytokine levels which can lead to a prothrombotic state and have a greater risk in the presence of comorbidities. A history of cardiac or renal transplants as well as the naturally elevated cytokine levels in Fabry disease make it likely that COVID-19 could have a greater impact on the health of these patients. We report the case of a 67-year-old male with diabetes mellitus, history of kidney transplant, and Fabry disease treated late in progression of the disease first with agalsidase beta ERT, then oral migalastat who developed severe manifestations of COVID-19. The autopsy findings showed acute and organizing hyaline membrane disease consistent with COVID 19 pneumonia and secondary invasive bronchopulmonary aspergillosis with cavitary lesion formation. The sections of the heart showed scattered subendocardial fibrosis, and the transplanted kidneys showed thyroidization and interstitial nephritis potentially secondary to COVID-19, in addition to his long-standing renal disease. This case report serves to chronicle complications in a complex patient with late stage Fabry disease and multiple COVID-19 related complications who succumbed from respiratory failure despite the advanced management for the COVID-19 infection. |
| Databáze: | OpenAIRE |
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