Exam 1 Diseases Flashcards Preview

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Flashcards in Exam 1 Diseases Deck (28):
1

Sideroblastic anemia

DE Deltal ALA sythase

2

porphyria

DE: ALA dehydratase/BPM sythase as well as
ALA deaminase

3

Protoporphyria

DE: ferrochelatase

4

Pb poisoning

inhibits ALA dehydratase= porphyria and ferrochelatase

5

Porphyria cutanea tarda

DE: Uroporphrinogen decarboxylase

6

Thalassemia

disruption in balance of beta and alpha globin production
Mycrotic hyperchromic anemia/prominent target cells
reduced heme A with increased heme A2 or F

7

sickle cell

point mutation in the gene that codes for beta globulin valine -> glutamic acid

8

cooleys anemia

Beta thalassemia

9

icteris/ jondis

too much billirubin posible DE: UDP glucuronyl transferase

10

Crigler-Najjar syndrome

increased indirect bilirubin (unconjugated) DE Glucuronyl transferase cant conjugate billirubin/severe congenital jaundice death at 6 mo

11

Gilbert syndrome:

increased indirect bilirubin (unconjugated) point mutation in gene for Glucuronyl transferase less efficiant acute jondice when stress benign

12

Kernicterus:

increased indirect (unconjugated) bilirubin HbF does not respond to 2,3 BPG
massive destruction of RBC's/ expose to blue light

13

Dubin-Johnson syndrome

Increased direct (conjugated) bilirubin. BLACK LIVER brown urine/defective canalicular transport

14

Rotor syndrome

Increased conjugated/direct bilirubin multiple defects in hepatocellular uptake and excretion of bilirubin pigment/Problem with storage of bilirubin in liver jaundice normal life

15

Glanzmann thrombasthenia

DE: Gp IIb-IIIa complex cant recruit and hold platelets in plug

16

Von willerbrand disease

unable to hold platelet to vascular wall/cant increase 1/2 of factor viii

17

Macrocytic anemia

large vol of RBC not enough hemoglobin/ vit b9 (folate) and B12 (cobalamin def)

18

X-linked SCID

decreased T cells/normal or increasing B cells, Reduced serum Ig lack of IL 7 signals

19

Systemic Lupis erythematosis SLE

C2 deficiency

20

Hereditary Angioneuronic edema HANE

C1-INH deficiency C1 not regulated c2 and c4 low

21

Paroxysmal Nocturnal Hemoglobinuria PNH

DAF deficiency treat with erythropoietin

22

C1,C2,C4 deficinecys

Immune-complex disease

23

C3/factor I deficiency

susceptible to capsulated bacteria

24

C5-9 deficiency

susceptible to neisseria

25

factor D/P (Properdin)

susceptible to neisseria and capsulated bacteria no immune complex disease

26

DAF/CD59

Paroxysmal Nocturnal Hemoglobinuria PNH/autoimmune

27

Di-George sydrome

Thymus and parathyroid hypoplasia/ immuno def.

28

HIV1/HIV2

lentiviruses type of retrovirus/integrates into dna/nef molecule down regulates MHC/ kills cd4+ t cells