Diseases

Question 1

Respiratory Acidosis

Answer 1

Low pH, high pCO2, high HCO3-

Caused by asthma, bronchitis, obesity, sedatives/anesthetics

Question 2

Respiratory Alkalosis

Answer 2

High pH, low pCO2, low HCO3-

Caused by anxiety/pain, high altitude, hyperventilation

Question 3

Metabolic Acidosis

Answer 3

Low pH, low HCO3-, low pCO2

Caused by renal failure, methanol poisoning, diabetic ketoacidosis

Question 4

Metabolic Alkalosis

Answer 4

High pH, high HCO3-, high pCO2

Caused by acute alkali administration, vomiting, gastric aspiration, diuretics

Question 5

Creutzfeldt-Jakob disease

Answer 5

Prion disease (also Kuru, vCJD (mad cow)
prion protein mutation results in incorrect folding structure - induces normal proteins it contacts to also change conformations
Insoluble aggregate fibers accumulate in brain & result in degeneration of brain

Question 6

Parkinson disease

Answer 6

Results from loss of dopaminergic neurons - lead to tremor, bradykinesia, and postural instability
Formation of Lewy bodies in brain - aggregates of alpha-synuclein that precedes neurodegeneration (induces formation of more Lewy bodies)

Question 7

Alzheimer disease

Answer 7

Most common cause of dementia
Plaque (containing amyloid-beta) and fibrillary tangles (containing tau) form in brain
amyloid-beta seed plaque formation, abnormal tau seeds fiber tangle formation

Question 8

Sickle cell anemia

Answer 8

Mutation replacing glutamate with valine on beta chain of Hb creates a sticky hydrophobic patch
In T-form patch is exposed and RBC fibers change shape to shield patch - sickle shape, weak cell, blocks blood vessels & damages organs

Question 9

Scurvy

Answer 9

lack of ascorbate (vitamin C) prevents formation of hydroxyproline & hydroxylysine - essential for stability of triple helices in collagen fibrils
Blood vessels, tendons, and skin become fragile

Question 10

Ehlers-Danlos syndrome

Answer 10

connective tissue disorders - skin fragility, hyperextensibility, joint hypermobility
Mutations in collagen proteins or proteins required for collagen processing

Question 11

osteogenesis imperfecta

Answer 11

brittle bone diseases - fragile bones, loss of hearing

Can be lethal or simply slightly reduced one mass

Question 12

chronic lactic acidosis

Answer 12

primarily caused in kids by PDH deficiency
severe neurological problems
frequently fatal

Question 13

Thiamin (B1; TPP) deficiency

Answer 13

caused mainly by poor diets in alcoholics, elderly, and low income groups
Early symptoms include constipation, nausea, fatigue, peripheral neuropathy

Question 14

Wernicke-Korsakoff syndrome

Answer 14

advanced thiamin (B1) deficiency
seen in alcoholics
Mental confusion, ataxia, loss of eye coordination

Question 15

Beri-beri

Answer 15

severe dietary deficiency (esp. thiamin, B1)

Neuromuscular symptoms - muscle weakness, atrophy, fatigue, peripheral neuropathy, lactic acidemia

Question 16

Essential fructosuria

Answer 16

No fructokinase, no uptake of fructose into the liver

benign - fructose eliminated

Question 17

Hereditary Fructose intolerance

Answer 17

Caused by a deficiency in aldolase-B
Fructose -P accumulates in liver and can’t be broken down
liver damaged