Gaucher's Disease: Etiology, Types, Clinical Features, Pathogenesis, Diagnosis, and Treatment

📌 𝐅𝐨𝐥𝐥𝐨𝐰 𝐨𝐧 𝐈𝐧𝐬𝐭𝐚𝐠𝐫𝐚𝐦:-   / drgbhanuprakash   📌𝗝𝗼𝗶𝗻 𝗢𝘂𝗿 𝗧𝗲𝗹𝗲𝗴𝗿𝗮𝗺 𝗖𝗵𝗮𝗻𝗻𝗲𝗹 𝗛𝗲𝗿𝗲:- https://t.me/bhanuprakashdr 📌𝗦𝘂𝗯𝘀𝗰𝗿𝗶𝗯𝗲 𝗧𝗼 𝗠𝘆 𝗠𝗮𝗶𝗹𝗶𝗻𝗴 𝗟𝗶𝘀𝘁:- https://linktr.ee/DrGBhanuprakash Gaucher's Disease: Etiology, Types, Clinical Features, Pathogenesis, Diagnosis, and Treatment An autosomal recessive disease caused by a deficiency in β-glucocerebrosidase that leads to intracellular accumulation of glucocerebroside in the brain, liver, spleen, and bone marrow. Causes hepatosplenomegaly, neurodegeneration, osteoporosis, and aseptic necrosis of the femur. The most common lysosomal lipid storage disease. Etiology: An autosomal recessive inherited disease Epidemiology ---------------------- Most common lysosomal lipid storage disease Type I is the most common form (associated with a normal lifespan) Pathophysiology: deficiency of β-glucocerebrosidase → accumulation of glucocerebroside in the brain, liver, spleen, bone marrow. Clinical features --------------------------- Vary according to the exact subtype of Gaucher disease Type I: non-neuronopathic Gaucher disease Type II: acute neuronopathic Gaucher disease Type III: chronic neuronopathic Gaucher disease All types Hepatosplenomegaly Bone: bone crises, osteoporosis, avascular necrosis of the femur Blood abnormalities: anemia, thrombocytopenia Pulmonary manifestations Growth delays Type II Congenital ichthyosis (collodion baby), acute neurodegeneration Death before 2 years of age Type III: has a gradual onset of symptoms, including neurodegeneration Diagnosis: ----------------- Reduced glucocerebrosidase activity in leukocytes or fibroblasts Accumulation of glucocerebroside in leukocytes or fibroblasts Gaucher cell: Lipid-rich macrophages with an enlarged cytoplasm with inclusions that resemble crumpled tissue paper on microscopy. Treatment: recombinant glucocerebrosidase #gaucherdisease #gauchersdisease #gauchercell #gaucher #usmle #usmlebiochemistry #usmlestep1 #neetpg #nationalexittest #clinicalbiochemistry #fmge #mbbs #mbbsbiochemistry #lipidmetabolism #carbohydratemetabolism #mbbsvideos #medicalvideos #medicalanimations