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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