Diseases! Flashcards

1
Q

Hemochromatosis

A
  • Too much hemosiderin in liver

- hereditary

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2
Q

Niemann-Pick Disease [What is it, mech]

A
  • inborn storage disease

- failure in breakdown of sphingomyelin

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3
Q

Hurler Syndrome [what is it, mech]

A
  • inborn storage disease

- failure in breakdown of mucopolysaccharides

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4
Q

Hereditary tyrosinemia [what is it, mech]

A
  • inborn storage disease

- failure in breakdown precursor tyrosine metabolites

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5
Q

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

A
  • 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
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6
Q

Effect of carbon dust accumulation in lung

A

pulmonary fibrosis

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7
Q

Pneumoconiosis [what is it, cause]

A
  • non-neoplastic disorder of lung

- due to toxic inhalants

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8
Q

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

A
  • occurs in injured tissue
  • – heart valves, atherosclerotic blood vessels, areas of necrosis, neoplasms
  • normal serum Ca
  • normal Ca metabolism
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9
Q

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

A
  • 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
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10
Q

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

A
  • autosomal dominant
  • abnormal intranuclear protein lamin A
  • normal lamin A protects integrity of nucleus
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11
Q

Werner syndrome [what is it, recessive or dominant]

A
  • autosomal recessive
  • dysfunctional DNA helicase
  • causes abnormal accumulated DNA damage
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