Diseases! Flashcards Preview

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Flashcards in Diseases! Deck (11):
1

Hemochromatosis

- Too much hemosiderin in liver
- hereditary

2

Niemann-Pick Disease [What is it, mech]

- inborn storage disease
- failure in breakdown of sphingomyelin

3

Hurler Syndrome [what is it, mech]

- inborn storage disease
- failure in breakdown of mucopolysaccharides

4

Hereditary tyrosinemia [what is it, mech]

- inborn storage disease
- failure in breakdown precursor tyrosine metabolites

5

Alpha-1 antitrypsin deficiency [mech, effect in liver, effect in rest of body]

- mutation causes slow folding of a1at protein
- partially folded precursor gets stuck in ER of hepatocytes
- causes irreversible ER injury + cell death
- get hepatic scarring [fibrosis + cirrhosis]
- get deficiency a1AT in rest of body --> pulmonary emphysema

6

Effect of carbon dust accumulation in lung

pulmonary fibrosis

7

Pneumoconiosis [what is it, cause]

- non-neoplastic disorder of lung
- due to toxic inhalants

8

Dystrophic calcification [type of tissue it occurs in, serum Ca levels, Ca metabolism levels]

- occurs in injured tissue
--- heart valves, atherosclerotic blood vessels, areas of necrosis, neoplasms
- normal serum Ca
- normal Ca metabolism

9

Metastatic calcification [type of tissue it occurs in, serum Ca levels, Ca metabolism levels, examples of diseases associated, 4 common sites]

- occurs in normal tissues
- increased serum Ca
- deranged Ca metabolism
- examples: hyperparathyroidism, vit D intoxication, chronic renal failure, destruction of bone
- 4 common sites: stomach, kidney, lungs, blood vessels

10

Hutchinson-gilford progeria [what is it, recessive or dominant]

- autosomal dominant
- abnormal intranuclear protein lamin A
- normal lamin A protects integrity of nucleus

11

Werner syndrome [what is it, recessive or dominant]

- autosomal recessive
- dysfunctional DNA helicase
- causes abnormal accumulated DNA damage