Sweep 2 Flashcards by Tyler Brown

• Familial Hypercholesterolemia- Treatment-

Iomitapide

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• Phenylketonuria- ———– disorder that affects 1 in 10,000 Caucasian infants. Severe lack of ————–, leading to —————. Affected infants are normal at birth, but elevated phenylalanine levels impair brain development, and mental retardation is evident by 6 months of age.

Autosomal recessive

phenylalanine hydroxylase

hyperphenylalaninemia and PKU

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• Lysosomal Storage Diseases- ——————— transmission. Commonly affect infants and young children. Accumulation of —————— in —————— with ——————- Frequent ——- involvement, mental retardation and/or early death

Autosomal recessive

insoluble large molecules (sphingolipids and mucopolysaccharides)

macrophages

hepatosplenomegaly

CNS

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Aspirin: major injury is

metabolic one – first there is respiratory alkalosis followed by metabolic acidosis. It may progress to seizures and coma.

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• Organ system changes radiation-

o Hematopoietic, lymphoid-

Lymph nodes and spleen shrink in size. Granulocytes decrease over 1-2 wks and rebound in 2-3 months, pts are susceptible to infections at this time!

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• Aggregation- Release of ———– into the local milieu causes activation of ————— mediated through ————–

cytoplasmic ADP

adjacent platelets, and platelet-platelet binding

fibrinogen and the gp IIb/IIIa receptor.

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• Fibrin clot- formed when fibrin monomers generated by

thrombin polymerize

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Fibrin clot: o Stabilization of fibrin monomers by

factor XIII

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o Antithrombin II in presence of heparin→

complex with thrombin

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Antithrombin II • Destroys ability of ———– to participate in generation of ———- monomers

thrombin

fibrin

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• Protein C System- regulation of factors ————-

Va and VIIIa

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o Protein C or S deficiencies result in ————— states

hypercoagulable

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• Fibrinolysis- limits generation of

fibrin clot

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Fibrinolysis: o Tissue plasminogen activator in presence of fibrin
• Leads to conversion of ————-
o Uncontrolled activation of plasmin→ ————

plasminogen→plasmin

fibrinogenolysis

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Disorders of primary hemostasis-

o Clinical manifestations-

mucocutaneous bleeding, trauma associated bleeding

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Disorders of primary hemostasis:

o Lab manifestations-

prolonged bleeding time and thrombocytopenia

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• Disorders of secondary hemostasis-

o Clinical manifestations-

soft tissue bleeding, trauma associated bleeding

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• Disorders of secondary hemostasis-

o Lab manifestations-

prolonged PT and/or PTT and/or thrombin time

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• Disorders of regulatory system-

o Clinical manifestations-

soft tissue bleeding, trauma associated bleeding

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Disorders of reg system:

o Lab manifestations-

normal

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• Thombocytopenia- ———– in platelet count. Spontaneous bleeding may not become manifest until count ————-. o

decrease

falls below 20,000

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Thrombocytopenia:

Clinically-

petechial hemorrhages in skin and mucous membranes

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Thrombocytopenia:

o Lab

peripheral blood smear morphology, platelet antibody tests also helpful

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• Immune Thrombocytopenic Purpura (ITP)-

o Clinically-

petechial hemorrhage, bruising, gingival bleeding

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• Immune Thrombocytopenic Purpura (ITP)- | o Lab-

bone marrow reveals megakaryocytes normal or increased

• Immune Thrombocytopenic Purpura (ITP)- | o Therapy-

acute often self-limited 2-6 weeks, corticosteroids (suppress antibody formation), IV immunoglobulin, and splenectomy

o Ex. Hemolytic transfusion reaction- decrease in ------------ leads to ------------ excretion in urine.

serum haptoglobin hemoglobin

Hemoglobin is toxic to kidney leading to ---------------

hyperbilirubinemia and jaundice

• Vitamin B12 and Folate deficiency- -------------- Anemia; need these to make -----------, deficiency leads to delay in mitotic division, nuclear size increases, end result is huge red cell precursor (megaloblast).

Megaloblastic thymidine

• Primary absolute-

non-regulated proliferation of red cells and myeloid cells (polycythemia vera); stem cell disorder associated with normal or low levels of erythropoietin

• Secondary absolute→ living at high altitude, cyanotic heart disease, pulmonary disease, due to stimuli that ------------ erythropoietin

increase

• Non-Hodgkin Lymphoma- arise in lymphoid tissue and have capacity to spread; 85% B cell origin (rest mostly T cell); incidence rises steadily after age 40. Tend to have multiple node involvement, more frequent extranodal spread and peripheral blood involvement, affects all ages o Cell of origin- 85% B cell; lymphoma develops when there is monoclonal expansion of

arrested lymphocytes. Unregulated proliferation occurs, from a single transformed cell and daughter cells are identical to original cell

• Chronic lymphocytic leukemia-

mature-appearing but immunologically incompetent lymphocyte implicated. >95% B cell type, most commonly express IgM-κ surface immunoglobulin

CLL: o ------------ common

Peripheral leukocytosis common

CLL o ------------- may develop as marrow is overrun by leukemic cells

o Cytopenias

• Chronic myelogenous leukemia (CML)- immature hematopoietic cell implicated. Clonal proliferation of --------------- (stem cell disorder). Marked increase in white blood cell count with eosinophilia and basophilia. Splenomagaly typically present, stem cell pool 10-20x normal

immature granulocytes

CML: o The terminal phase of the disease marked by a relative increase in immature cells in ---------------- and decreased response to ------------, is known as ----------------. This stage is equivalent to an acute leukemia, and is of myeloid lineage in 2/3 and of lymphoid lineage in 1/3.

peripheral blood and bone marrow, treatment blast crisis

Plasma Cell Disorders

Multiple myeloma

• Multiple myeloma- proliferating cell is plasma cell that produces -----. 60% IgG, 20-25% IgA, in the rest it is usually only kappa or lambda light chain rarely any of the others. Find excess Ig in pts, pts can excete the low molecular weight light chains in urine. o

Multiple myeloma: Bone resorption results from secretion of osteoclast activating factors by the ----------

myeloma cells

Multiple myeloma: Proteinaceous casts may form in

kidneys (myeloma kidney)

Multiple myeloma:

o Hypercalcemia present often o Avg pt is 70yr o Pts present with bone pain, hypercalcemia and renal disease o Documenting monoclonal protein and skeletal lesions makes the diagnosis o Empyema – suppuration (purulence) in pleural cavity, often related to bacterial infection

o Empyema –

suppuration (purulence) in pleural cavity, often related to bacterial infection

• Chronic obstructive pulmonary disease (COPD)- 4 classic disorders

o Emphysema- o Chronic bronchitis o Bronchiectasis- chronic infection with permanent, large airway dilation o Asthma-

Chronic bronchitis – cough with ------------ at least 3 consecutive months for 2 consecutive years; often occurs with emphysema and may present with -------

sputum production hypoxemia and cyanosis- Blue bloaters; due to chronic irritation and infections

• Acute Respiratory Distress Syndrome (ARDS)- same histologic features as -------------, due to --------

interstitial pneumonia shock, infections, trauma, drug overdose, irritants, aspiration, fat emboli,

ARDS: injury to --------------

endothelium alveolar epithelium

ARDS: o increased ---------------

endothelial permeability

• Pulmonary Abscess- seen with ----------- due to

cough, fever and purulent sputum | septic emboli, airway obstruction, dental sepsis, bronchiectasis

Pulmonary abscess: o Course-

scar, may cavitate tissues

• Uremia- association of -------- with clinical signs and symptoms, including

azotemia gastroenteritis, peripheral neuropathy, pericarditis, dermatitis, hyperkalemia and metabolic acidosis

o Acute nephritic syndrome: results from ----------- and is characterized by

glomerular injury acute onset of hematuria, mild to moderate proteinuria, azotemia and hypertension

o Nephrotic syndrome: glomerular syndrome characterized by ---------- (>3.5g/day), hypoalbuminemia, severe edema, hyperlipidemia and lipiduria

heavy proteinuria, (>3.5g/day), hypoalbuminemia, severe edema, hyperlipidemia and lipiduria

• Thrombotic Microangiopathies-

o TTP- acquired defect in ADAMTS13 | • Widespread involvement of other organs in TTP

• Arterionephrosclerosis associated with

malignant hypertension- hypertension >200/120mmHg occurs in about 5% of pts with essential hypertension

Arterionephrosclerosis: o Clinical-

relatively rapid onset of renal failure with increased intracranial pressure leading to headache, nausea, vomiting and visual impairment

• Arterionephrosclerosis- o Histopathology- narrowing of lumen of arterioles and arteries caused by

hyaline type of arteriolosclerosis

o Acute renal failure:

sudden onset of azotemia with oliguria/anuria

o Nephrotic syndrome-

heavy proteinuria, hypoalbuminemia, severe edema; caused by increase glomerular capillary permeability to plasma proteins

• Minimal change disease- most common cause of --------------- in children

nephrotic syndrome

• Focal and segmental glomerulosclerosis-

fibrotic change going on; common cause of nephrotic syndrome in adults; may be idiopathic or secondary to other glomerular diseases, scarring

• Focal and segmental glomerulosclerosis- o Path-

segmental sclerosis of some glomeruli characterized by increased mesangial matrix collagen with obliteration of capillary loops

Focal and segmental glomerulosclerosis: | o Therapy-

poor response to corticosteroid treatment- renal failure in 50% after 10 yrs

• Membranous nephropathy (glomerulonephritis)- most common in adults age 30-50yrs; may be

primary and limited to kidney or secondary to infection malignancy, SLE or drugs

Membranous nephropathy: o Path-

immune complexes in the epithelial side of GBM demonstrable by immunofluorescence and EM

Membranous nephropathy: o Therapy-

poor roseponse to corticosteroid treatment with 40% developing renal failure in 2-20 yrs

Nephritic Syndrome | • Characterized by acute onset of

hematuria, oliguria/azotemia, and hypertension

Nephritic syndrome: • Proliferation of cells within glomeruli accompanied by ------------→severe capillary wall injury, results in

inflammatory cells blood passing into urine as well as GFR

• Crescentic/Rapidly Progressive Glomerulonephritis- acute clinical syndrome, progressive

loss of renal function, severe oliguria; death from renal failure in weeks to months if untreated

• Crescentic/Rapidly Progressive Glomerulonephritis | o Path-

crescentic glomerulonephritis due to proliferation of epithelium with histiocyte infiltration o May be associated with antibodies directed against a glomerular basement antigen

Acute Pyelonephritis- aka Tubulointerstitial nephritis | • ----------------- of kidney and renal pelvis caused by bacterial infection, affects --------------------

Suppurative inflammation tubules, interstitium and pelvis→typically secondary to bacterial infection

Acute tubular necrosis: • Etiology-

injury to tubular epithelial cells from ischemia or a toxin

Acute tubular necrosis: • Pathology-

dilation of tubules, interstitial edema, necrosis of epithelium

8. Which of the following is a characteristic feature of the nephritic syndrome? ``` A. heavy proteinuria (> 3.5 grams per day) B. edema C. hypoalbuminemia D. hyperlipidemia E. hematuria ```

E. Everything else is nephrotic. Not necessarily completely different, but they are different enough.