Gaucher's Disease Flashcards
Chemical components of red blood cells are broken down within ________ of macrophages due to actions of _________ enzymes.
Vacuoles; lysosomal
________ of the red blood cells are made of lipids
30%
__________ of red blood cells are removed by macrophages in the liver.
90%
_______ of red blood cells are hemolyzed in circulation and then engulfed by macrophages.
10%
Macrophages have an extensive enzymatic machinery to break down lipids and the enzyme we care about is called _____________
Glucocerebrosidase
What is thrombocytopenia?
Low blood platelet number, resulting in easy bruising and slow clotting time
What is jaundice?
Yellowish pigmentation of the skin, tissues and certain body fluids, caused by the deposition of bile pigments that follows certain liver disease
___________ is when the sclera of the eye is yellow because of jaundice
Scleric icterus
________ are nosebleeds
Epitaxis
In ____________ when the spleen enlarged too much, it weeds out too many blood cells including good ones.
Chronic hemolytic anemia
A ___________ causes increased production of blood cells in the bone marrow.
Myloproliferative disorder
In Gaucher’s disease, we see an increased concentration of _________ in the blood, or immature red blood cells.
Retriculocytes
1 in __________ ashkenazi jews are carriers.
12-15
In the absence of __________, glucocerebroside accumulates in the lysosomes, resulting in elongation of the lysosomes that fill the cytoplasm of the macrophages, giving it the characteristic fibrillar or striated appearance.
Glucocerebrosidase
What are the four methods of screening used to diagnose GD?
- Blood test 2. Genetic testing 3. Prenatal screening 4. Preconception screening
