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Gaucher Disease - Coggle Diagram
Gaucher Disease
Symptoms
Type 2
symptoms from type 1, and other problems involving the nervous system (eye problems, seizures and brain damage). Begins at infancy. usually don't live past age of 2
Major symptoms
enlargement of liver and spleen, anemia, easy bruising, bone disease, heart, lung, and nervous system problems
Type 3
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more slow and progressive disease, often show symptoms before age of 2
Type 1
bone disease, hepatosplenomegaly, anemia, thrombocytopenia, lung disease
What is it?
an autosomal recessive inherited disorder of metabolism where a type of fat can't be adequately degraded
people with Gaucher Disease don't make enough glucocerbrosidase (breaks down, recycles part of cell membrane)
leads to lipid build up in liver, spleen, bone marrow, and nervous system
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Treatment
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spleen removal, blood transfusions, pain medications, joint replacement
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