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Hey everyone,
The following is a list of all the diseases discussed in this unit (quite a bit more
than last time). It is alphabetized, so you can look stuff up easily, and be able to compare
diseases with similar names. I believe all the information is accurate, but if you guys find
any glaring mistake, please send it out to the yahoogroup so that no one gets confused. I
am still trying to wrap my mind around all of Dr. White’s material, so you might find
more complete info in his notes, or in “Beeman’s”.
Forgive my random side notes, they are completely the product of being tired and
preferring to look crap up on google instead of actually study.
-Pat Clements
Crigler-Najjar Syndrome
- rare, recessive
- extremely reduced/absent UDP-glucoronosyl transferase
buildup of unconjugated bilirubin
Type I: Severe Jaundice
- may require liver transplant
- Kernicterus (brain damage cerebral palsy & hearing loss)
Type II: Moderate Jaundice
- may respond to inducers (i.e. Phenobarbital)
Hereditary Hemochromatosis
- iron overload disorder
- defect leads to increased affinity for transferrin
increased iron absorption
- iron becomes toxic for organs (i.e. liver and kidneys)
- increased hepcidin activity
(iron release inhibited trapped in macrophages)
- ferratin becomes saturated
- more bound iron capacity (increased marrow hemosiderin)
- no available capacity (low reticuloendothelial stores)
- hypochromic RBC’s
- treat with phlebotomy
(if too much iron, take away RBC’s erythropoiesis)
*in other words, give body a useful way to use excess iron!
Myocardial Infaction (MI) - critical loss of circulation to the heart (coronary artery)
- caused by a white thrombus (platelet plug)
- heart tissue that dies cannot be recovered
- an acute crisis
- high risk patients will have their platelets targeted
(reduce clots) use aspirin, etc
Niemann-Pick Disease (Type A)
- deficient in sphingomyelinase
-can’t break ceramide---P-choline bond
accumulation of sphingomyelin in neurons and “foamy”
reticuloendothelial cells of liver, spleen, and bone marrow
- neuromuscular deterioration, mental retardation
Trauma (and clot risk)- Following severe injury, body upregulates platelet production
(senses need)
- High risk for clots in days following injury
- use anticoagulation treatment