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19 Cards in this Set
- Front
- Back
hemophilia A
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lack of factor VIII
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Hemophilia B / christmas diz
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lack of factor IX
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glucose 6 phosphate dehydrogenase
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inability to eradicate radical o2 species espeicially in RBC, while other tissues remain helathy
hemolysis occurs wiht exposure to excess radicals such as infxn, drugs (sulfa drugs, primaquine) |
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Fragile X syndrome
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structural defect in chromo X
clinical: Mental retardation large ears and jaw in males, bilateral macroorchidism 505 of females have retartdation too ****triple reapeat disorder of CGG that demonstrates anticipation*** increase repeats with each generation> increase the severety of symptoms |
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FAbry dix
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type of sphinogolipidoses
decrease a-galactosidase A characterized by angiokeratomas (wart like growths with telangiectasias) and renal failrure. |
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Lesch nyhan syndrome
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def. of hypoxanthine guanine phosphoribosyltransferase (HGPRT) in teh salvage pathway of purines reulting in incrsease metabolims of purines to produce excessive production of uric acid
self mutilation |
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Lesch nyhan syndrome
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def. of hypoxanthine guanine phosphoribosyltransferase (HGPRT) in teh salvage pathway of purines reulting in incrsease metabolims of purines to produce excessive production of uric acid
self mutilation |
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duchene muscular dystrophy
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lack of dystrophin
very hihg creatine kinase and by proximal muscle weakness (shoulder girdle and hip girdle are affeceted most 1st) and eventual muscle dystrophy positive gowers sign very short life span ( death in early 20s) wheelchair bound in early teens |
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duchene muscular dystrophy
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lack of dystrophin
very hihg creatine kinase and by proximal muscle weakness (shoulder girdle and hip girdle are affeceted most 1st) and eventual muscle dystrophy positive gowers sign very short life span ( death in early 20s) wheelchair bound in early teens |
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Becker mucle dystrophy
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less severe than duchene
decresed dystrophin |
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Becker mucle dystrophy
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less severe than duchene
decresed dystrophin |
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bruotns agammaglobulineam
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low of absent mature B cells
recurrent bacterial infx |
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bruotns agammaglobulineam
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low of absent mature B cells
recurrent bacterial infx |
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Wiskott Aldrich syndrome
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triad: otitis media, eczema, thrombocytopenia (low numbers and smaller size (low MPV)
associated with IGM dysfunction |
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Wiskott Aldrich syndrome
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triad: otitis media, eczema, thrombocytopenia (low numbers and smaller size (low MPV)
associated with IGM dysfunction |
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chronic granulomatous dis
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granulmos form becasue neutophils and macrophages are unable to eradicate the foreign subtaance
multiple granuloma formation type of type IV hps |
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chronic granulomatous dis
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granulmos form becasue neutophils and macrophages are unable to eradicate the foreign subtaance
multiple granuloma formation type of type IV hps |
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Hunters dis
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mucopollysaccharides
mental retardation and normal corneas gargoyle like facies |
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Hunters dis
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mucopollysaccharides
mental retardation and normal corneas gargoyle like facies |