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28 Cards in this Set
- Front
- Back
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primary deficiency diseases
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-due to inadequate diet
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kwashiorkor
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-adequate calories
-protein deficiency |
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marasmus
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-deficient total calories
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vita A deficiency (3)
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-night-blindness
-epithelial metaplasia -retarded bone growth |
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Vita D:
made by function deficiency |
-exposure to UV
-Ca++ and PO4- metabolism -Rickets: normal bone matrix but deficient mineralization |
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Vita K:
necessary in deficiency common manifestation |
-formation of prothrombin (factors VII, IX, X)
-hypoprothrombinemia -gingival bleeding |
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B vitamin deficiencies affect
signs (4) |
-tissues w/ high turnover rates
-stomatitis, gastritis, hematologic disorders, nervous system |
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beri-beri:
cause affects signs (3) |
-thiamine deficiency (vita B1)
-nervous system -CHF, neuritis, muscle atrophy |
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riboflavin:
vita deficiency signs (4) |
-B2
-ariboflavinosis -cheilosis, dermatitis, glossitis, ocular lesions |
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Pellegra:
deficiency signs (3) |
-niacin
-dermatitis (maybe bright red, beefy tongue), diarrhea, dementia |
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folic acid deficiency leads to what kind of anemia
signs |
-macrocytic (megaloblastic)
-glossitis, diarrhea |
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what leads to pernicious anemia
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-vita B12 deficiency
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scurvy:
deficiency defective formation of (4) affecting primarily (3) in the ribs affects oral signs (3) |
-vita C
-collagen, dentin, osteoid, intercellular cementing substance -wound healing, bone formation, bv integrity -scorbutic lattice -spongy gums, bleeding from all mucous membranes, loss of teeth |
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genetic metabolic disorders are ______ traits
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-autosomal recessive
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structural genetic deformities are ________ traits
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-autosomal dominant
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glc-6-phospate dehydrogenase deficiency:
effect heredity leads to |
- cannot reduce glutathione
- x-linked - RBC lysis, anemia |
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sickle cell anemia:
caused when heredity |
-valine is replaced by glutamic acid -> abnormal Hb-S is produced instead of Hb-A
-autosomal recessive |
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thalassemia:
literal translation genetics (2) cause effect |
-"thalassa" = sea + "haima" = blood (greek)
-autosomal recessive, prevalent amonth Mediterraneans -reduced synth of alpha, beta hemoglobin chain -globin aggregates -> lysis |
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albinism:
deficiency of _______ which is required for _______ |
-tyrosinase; synth of melanin pigment
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phenylketonuria:
cause effect |
-mutated phenylalanine hydroxylase
-mental retardation |
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Von Gierke's Disease:
type cause |
-hepatorenal glycogen storage disease
-glc-6-P deficiency |
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Pompe's disease:
type cause effect |
-glycogen storage
-alpha-glucosidase def -glycogen storage in striated m., usually the heart |
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McArdle's Syndrome:
type cause effect (2) |
-glycogen storage
-muscle phosphorylase def -profound muscle weakness, glycogen accumulation in striated m. |
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Gaucher's disease (3)
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-lipid reticuloendotheliosis
-glucocerebrosidase mutation -glucocerebroside (kerasin) accumulation in phagocytic cells |
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Niemann-Pick disease:
cause effect |
-sphingomyelinase def
-sphingomyelin accumulation w/in R-E cells in liver, spleen, marrow, nodes |
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Tay-Sachs:
aka cause effect signs, syndrome |
-GM2 gangliosidosis
-hexosaminidase A def -gangliosides (fatty acid deriv) accumulate in nerve cells -mental, motor deterioration. deafness, blindess -> "Amaurotic familial Idiocy" |
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gout:
type of disease types of gout cause effect |
-genetic metabolic defect
primary: causes increase of uric acid production 2ndary: same as primary, plus decreased uric acid excretion Tophi lesions |
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Lesch-Nyhan syndrome:
cause effect |
-mutated HGPRT (Hypoxanthine Guanine Phosphoribosyl Transferase)
-self mutilization behaviors, mental retardation |
