Gaucher disease: Recent advances in the diagnosis and management.

Document Type : Review articles

Authors

1 Pediatrics, Misr International University, Cairo, Egypt

2 Medical Parasitology, Immunology and Microbiology Department, National Hepatology and Tropical Medicine Research Institute (NHTMI), Cairo, Egypt

3 Clinical Pharmacy department (Biochemistry), Misr International University, Cairo, Egypt.

4 Department 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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