Name
GAUCHER DISEASE, TYPE II
DESCRIPTION
DETAIL
OTHER TESTS : * DECREASED ACID BETA-GLUCOSIDASE ACTIVITY (0-20% OF NORMAL) IN NUCLEATED CELLS. * ULTRA SOUND ABDOMEN - HEPATOSPLENOMEGALY * BLOOD TEST - ANEMIA , THROMBOCYTOPENIA , MILD LIVER FUNCTION ABNORMALITY * X-RAY - BONY ABNORMALITIES , EROSIONS, NECROSIS, CORTICAL BONE DESTRUCTION, OSTEOPENIA, AVASCULAR INFARCTION, VERTEBRAL COMPRESSED FRACTURES, ASEPTIC NECROSIS OF FEMORAL HEAD, DEFECTIVE BONE REMODELING.
TYPENOTES
THERE IS DEFICIENCY OF ENZYME BETA-GLUCOCEREBROSIDASE RESULTING IN ACCUMULATION OF CEREBROSIDE IN HEART & OTHER ORGANS.ENZYME REPLACEMENT THERAPY IS AVAILABLE NOW, GIVEN I.V. ON OUTDOOR BASIS EVERY 2 WEEKS.
RELATED DISEASE
Not Available Disease
DISEASE
INVESTIGATION
ULTRA SOUND WHOLE ABDOMEN - MALE, COMPLETE BLOOD COUNT, X-RAY, LIVER FUNCTION TEST