醫學二：100題 ( 包括生理學,生化學,藥理學,病理學等科目及其臨床相關知識 )題庫下載題庫

Lysosomal storage disease

1.  Gaucher dz: there is a macrophage with a crinkled paper like appearance in the cytoplasm.  There are lysosomes filled with glucocerebroside, therefore pt has Gaucher dz.  It’s an auto recessive dz with a missing glucocerebroside.  

2.  Niemann-Pick dz: bubbly cytoplasm, severe mental retardation, buildup of sphingomyelin in the lysosomes, herefore the pt has Niemann-Pick dz, missing sphingomyelinase.

3.  Pompe’s Dz: only glycogen storage dz that has lysosomal storage = Pompe’s; only glycogen storage dz that is lysosomal b/c they are missing an enzyme to brea...

Lysosomal storage disease

1.  Gaucher dz: there is a macrophage with a crinkled paper like appearance in the cytoplasm.  There are lysosomes filled with glucocerebroside, therefore pt has Gaucher dz.  It’s an auto recessive dz with a missing glucocerebroside.  

2.  Niemann-Pick dz: bubbly cytoplasm, severe mental retardation, buildup of sphingomyelin in the lysosomes, herefore the pt has Niemann-Pick dz, missing sphingomyelinase.

3.  Pompe’s Dz: only glycogen storage dz that has lysosomal storage = Pompe’s; only glycogen storage dz that is lysosomal b/c they are missing an enzyme to break glycogen down in the lysosomes.  How does pt die? Die from cardiac failure b/c excess deposition of normal glycogen in the heart.