Hassanin, F., Abbas, A., Schalaan, M., Rabea, M. (2022). Gaucher disease: Recent advances in the diagnosis and management.. Medical Journal of Viral Hepatitis, 6.2(2), 6-10. doi: 10.21608/mjvh.2022.234477
Fetouh Hassanin; Azza Hasan Abbas; Mona Schalaan; Mohamed Rabea. "Gaucher disease: Recent advances in the diagnosis and management.". Medical Journal of Viral Hepatitis, 6.2, 2, 2022, 6-10. doi: 10.21608/mjvh.2022.234477
Hassanin, F., Abbas, A., Schalaan, M., Rabea, M. (2022). 'Gaucher disease: Recent advances in the diagnosis and management.', Medical Journal of Viral Hepatitis, 6.2(2), pp. 6-10. doi: 10.21608/mjvh.2022.234477
Hassanin, F., Abbas, A., Schalaan, M., Rabea, M. Gaucher disease: Recent advances in the diagnosis and management.. Medical Journal of Viral Hepatitis, 2022; 6.2(2): 6-10. doi: 10.21608/mjvh.2022.234477
Gaucher disease: Recent advances in the diagnosis and management.
1Pediatrics, Misr International University, Cairo, Egypt
2Medical Parasitology, Immunology and Microbiology Department, National Hepatology and Tropical Medicine Research Institute (NHTMI), Cairo, Egypt
3Clinical Pharmacy department (Biochemistry), Misr International University, Cairo, Egypt.
4Department of Pediatric Gastroenterology, National Hepatology and Tropical Medicine Research Institute (NHTMI), Cairo, Egypt.
Abstract
Gaucher disease is a rare genetic disorder characterized by the deposition of glucocerebroside in cells of the macrophage-monocyte system. Gaucher disease is an inborn error of metabolism that affects the recycling of cellular glycolipids. This disease is a consequence of deficiency of the enzyme glucocerebrosidase. It causes bone pain, anemia, enlarged organs, painful belly and bruising and bleeding problems. There are many types of Gaucher disease, all cause similar symptoms in the organs and bones. Some forms of the disease also affect the brain. There is no cure for Gaucher disease, but a variety of treatments can help control symptoms, prevent irreversible damage and improve quality of life. Enzyme replacement therapy is the primary form of treatment for Gaucher disease.
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