Disease states Flashcards
PCH
Paroxysmal Cold Hemaglobinuria. Biphasic IgG antibody, binds at 30 degrees hemolyses at 37 degrees. Donath Landsteiner test
PNH
paroxysmal Nocturnal hemoglobinuria. Deficiency in GPI-linked proteins including DAF and CD59. this protect the membrane specifically DAF protects by preventing the binding of C2a and C4b together. Without DAF the membrane is more susceptible to complement mediated hemolysis
Bernard- Soullier
Deficiency in GP1B which binds vWF
Glanzman’s Thrombasthenia
Deficiency in GPIIb/IIIa which binds fibrinogen
SLE
systemic lupusertyromatosis. Immune complex disease. IC deposited in the dermal layer. C’ levels will be low in active disease. can cause vasculitis (inflammation of blood vessels), anemia, bleeding or blood clotting) ANA anti-nuclear antibodies test positive, anti-native-dsDNA
RA
rheumatoid arthritis- immune complex disease in which the immune complexes propagate in the synovial fluid leading to cartilage damage
Hemophilia A
Factor 8 deficiency. X-linked recessive, most common hereditary bleeding disorder
Hemophilia B
Facor 9 deficiency “Christmas disease” X-linked recessive- tendency for deep tissue bleeding, joints and muscles.
Ankylosing Spondylitis
B27 HLA association a chronic inflammatory disease affecting the spine, sacroiliac joints and large peripheral joints. 90% of people with disease have B27 HLA antigen
Disease association with HLA DR3
grave’s disease, sjorgen’s and SLE
Celiac disease
DR3-DQ2
Disease association with HLA D2
Good pasture’s syndrome and Multiple sclerosis
Myasthenia Gravis
autoimmune disorder target is acetylcholine recptor at neuromuscular joints. Prevents transmission of nerve impulses, leading to difficulty swalling and chewing, eventually death respiratory failure
Grave’s disease
hyperthyroidism- autoantibodies against receptors for TSH
Good pasture’s syndrome
autoimmune disorder. People with this syndrome develop substances that attack collagen in the tiny air sacs in the lungs and the filtering units (glomeruli) of the kidneys.
These substances are called antiglomerular basement membrane antibodies. The glomerular basement membrane is a part of the kidneys that helps filter waste and extra fluid from the blood. They can damage the basement membrane, which can lead to kidney damage.
Can develop disease post viral respiratory infection if already predisposed
Mcleoud syndrome
Lacking Xk gene, therefore expression of Kell is weakened, acanthocytes are a common feature, linked to chronic granulomatous disease
CGD
chronic granulomatous disease- inability to successfully kill pathogens, can phagocytize them but difficulty in creating the oxygen enzymes needed to destroy pathogens
Glomerularnephritis
Glomerulonephritis (gloe-mer-u-low-nuh-FRY-tis) is inflammation of the tiny filters in your kidneys (glomeruli). Glomeruli remove excess fluid, electrolytes and waste from your bloodstream and pass them into your urine. Glomerulonephritis can come on suddenly (acute) or gradually (chronic).
HUS
hemolytic uremic syndrome- Hemolytic uremic syndrome (HUS) is a condition that affects the blood and blood vessels. It results in the destruction of blood platelets (cells involved in clotting), a low red blood cell count (anemia) and kidney failure due to damage to the very small blood vessels of the kidneys.Most cases occur after infectious diarrhea due to a specific type of E. coli called O157:H7. Other causes include S. pneumoniae, Shigella, Salmonella, and certain medications.The underlying mechanism typically involves the production of Shiga toxin by the bacteria. Atypical hemolytic uremic syndrome (aHUS) is due to a genetic mutation and presents differently. Though both cause widespread inflammation and multiple blood clots in small blood vessels, a condition known as thrombotic microangiopathy.[6]
Treatment involves supportive care and may include dialysis, steroids, blood transfusions, or plasmapheresis. About 1.5 per 100,000 people are affected per year.Less than 5% of those with the condition die. Of the remainder, up to 25% have ongoing kidney problems.
Factor H deficiency is linked. LAB RESULTS: increase kidney values (creatinine), low platelets, low rbcs, clots, diarrhea (bloody) symptoms of kidney failure, decreased urine output
Deficiency in C1INH
Hereditary angioedema is a disorder characterized by recurrent episodes of severe swelling (angioedema). The most common areas of the body to develop swelling are the limbs, face, intestinal tract, and airway. Minor trauma or stress may trigger an attack, but swelling often occurs without a known trigger.
Urticarial reaction
Hives
Purpura
hemorrhage into the skin, mucous membranes and internal organs, clear sign is bruising