Pathology-Diseases
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15 terms
Terms | Definitions |
|---|---|
 Chediak-Higashi syndrome | autosomal recessive disorder which causes a defect in phagocytosis. Characteristics: neutropenia, neutrophils with giant granules (lysosomes), defect in chemotaxis and degranulation |
| chronic granulomatous disease of childhood | X-linked autosomal recessive; deficiency in NADPH oxidase, lack of superoxide and hydrogen peroxide, leads to recurrent bacterial infections with catalase positive organisms (S. Aureus) -Nitroblue tetrazolium test will be negative |
| myeloperoxidase deficiency | autosomal recessive; infections with candida |
| scurvy | vitamin C deficiency, first affecting collagen with the highest hydroxyproline content (such as that found in blood vessels) thus an early symptom is bleeding gums |
| Ehlers Danlos syndrome | Defect in collagen synthesis or structure. there are nine types, i..e. ED tyoe IV is a defect in type III collagen |
| osteogenesis imperfecta | defect in collagen type I |
| Bernard-Soulier Syndrome | Autosomal recessive, deficiency of Platelet glycoprotein Ib causes defective platelet adhesion |
| glanzmann thrombasthenia | Autosomal recessive deficiency of glycoprotein IIb-IIIa causes defective platelet aggregation |
| Immune Thrombocytopenia purpura (ITP) | Etiology -antiplatelet antibodies (made in the spleen) against platelet antigens such as Gp IIb-IIIa and Gp Ib-IX; two forms -acute (self limited, seen in children) and chronic (in women during chilbearing years, may be first symptom of Lupus (SLE); symptoms: petechiae, ecchymoses, menorrhagia, and nosebleeds; Lab -peripheral blood smear shows thrombocytopenia w/ enlarged immature platelets. treat w/ corticosteroids, Ig therapy, splenectomy |
| Thrombotic thrombocytopenic purpura (TTP) | Idiopathic; widespread formation of platelet thrombi w/ scant fibrin (hyaline thromi) no coaggulation system; mostly affects women; 5 characteristic signs (pentad): Fever, thrombocytopenia, microangiopathic hemolytic anemia, neurologic symptoms, renal failure; Lab -peripheral blood smear shows thrombocytopenia and schistocytes, and reticulocytosis |
| thrombocytopenia | abnormally low number of platelets in the circulating blood |
| Hemophilia A (classic hemophilia) | deficiency of factor VIII, X-linked recessive; mostly males, hemarthrosis, easy bruising and hematoma formation after minor trauma |
| Hemophelia B (christmas disease) | defieciency of Factor IX, x-linked recessive; clinically identical to Classic hemophilia (differentiate by lab test) |
| von Willebrand disease | inherited bleeding disorder characterized by a defieciency or defect of vWF. petechiae, ecchymoses, menorrhagia, nosebleeds (all symptoms of platelet disorders, except hemarthrosis uncommon); **Normal platelet count but a prolonged bleeding time** abnormal platelt response to ristocetin; treat type I w/ desmopressin (release vWF from wiebel palade bodies) |
| Disseminated intravascular coagulation (DIC) | always secondary to another disorder; Causes -obstetric complications, gram negative sepsis, microorganisms, AML M3 (Leukemia), adenocarcinomas; Characteristics - widespread microthrombi, platelet and coaggulation factors get used up and causes hemorrhages; LAB - low platelet count, elevated PT/PTT, decreased fribrinogen, elevated fibrin split products (D-dimers) ; treat underlying cause |
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