Diseases! Flashcards
Hemochromatosis
- Too much hemosiderin in liver
- hereditary
Niemann-Pick Disease [What is it, mech]
- inborn storage disease
- failure in breakdown of sphingomyelin
Hurler Syndrome [what is it, mech]
- inborn storage disease
- failure in breakdown of mucopolysaccharides
Hereditary tyrosinemia [what is it, mech]
- inborn storage disease
- failure in breakdown precursor tyrosine metabolites
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
Effect of carbon dust accumulation in lung
pulmonary fibrosis
Pneumoconiosis [what is it, cause]
- non-neoplastic disorder of lung
- due to toxic inhalants
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
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
Hutchinson-gilford progeria [what is it, recessive or dominant]
- autosomal dominant
- abnormal intranuclear protein lamin A
- normal lamin A protects integrity of nucleus
Werner syndrome [what is it, recessive or dominant]
- autosomal recessive
- dysfunctional DNA helicase
- causes abnormal accumulated DNA damage
