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15 Cards in this Set

  • Front
  • Back
Metabolism
physical and chemical processes of cells burning food to produce and use energy. Ex: digestion, waste elimination, breathing, thermoregulation, muscular contraction, brain function and circulation
Osteomalacia
Softening of bones
Osteopenia
Low bone mass; deprivation of bone
Osteopetrosis
Increased bone density
Osteoporosis
decreased bone density
pH
Measure of hydrogen Ion concentration
Phenylketonuria

(amino acid/organic acid metabolic disorder)
Elevated serum phenylalanine
Autosomal recessive, white
Brain most affected
Babies with levels >6 mg/dl require treatment

Sever mental retardation, gait disturbances, hyperactivity, psychoses, abnormal body odor, lighter skin coloring

Dietary restriction of phenylalanine. Prevention can prevent all symptoms
Tay-Sachs Disease

(Lysosomal storage disorder)
Absent or deficient hexosaminidase A producing accumulated gangliosides

Autosomal recessive, Eastern Euro Jews

At 6 months misses milestone. Retardation, paralysis, dies by 5

No effective treatment, genetic testing to ID carriers
Mitochondrial Disorders
Genetically inherited or spontaneous mutations

100 different forms

Treatment varied as sypmtomology. aims to slow disease down
Wilson's Disease

(Hepatolenticular degeneration)
Autosomal recessive defect in body's ability to metabolize copper.

Accumulation in brain, liver, cornea, kidneys.

At age six, Kayser-Fleischer rings around iris, degenerative changes in basal ganglia, hepatitis, cirrhosis of the liver, athetoid movements, ataxic gait patterns.

Treatment is long term vitamin B6 and D-penicillamine which promote copper excretion. Hepatic disease prevention is emphasized as well
Metabolic Alkalosis
Increase in Bicarbonate/Loss of acids

pH>7.45

Continuous vomiting, ingestion of antacids/basics, diuretic therapy, hypokalemia, nasogastric suctioning

Sx: nausea, diarrhea, vomiting, confusion, fasciculations, cramping, neuromuscular hyperexcitability, convulsions, paresthesias, hypoventilation

Tx: Correcting cause, correcting electrolyte imbalances, administering potassium chloride
Metabolic Acidosis
Accumulation of Acids/Bicarbonate loss

Renal failure, lactic acidosis, starvation, diabetic/alcoholic ketoacidosis, severe diarrhea, poisoning

pH<7.35

Sx: compensatory hyperventalation, vomiting, diarrhea, headache, weakness, malaise, hyperkalemia, cardiac arrhythmias

Tx: correcting cause, correcting electrolytes, administering NaCO3
Osteomalacia
Bones become soft secondary to calcium or phosphorus deficiency. Bone matrix is good, but lack of calcification.

Calcium lost through poor intestine absorbtion

Phosphorus lost due to increased renal excretion.

Vit D deficiency is possible cause.

Sx: vague aching, fatigue, weight loss. Myopathy, sensory polyneuropathy, thoracic kyphosis, LE bowing

Tx: Correct underlying etiology
Osteoporosis
Decrease in bone mass

Primary: Idiopathic, postmenopausal, involutional (senile)
Secondary: another condition, certain meds

Primarily trabecular and cortical bone. Resorbtion increases, formation declines. Lower osteoblast fxn and loss of calcium and phosphate lead to brittleness

Sx: fractures, lower thor/lumbar pain, loss of lumbar lordosis, decrease in height, dowager's hump

Tx: Vitamins and pharmacy, nutrition, assistive/adaptive devices, education. Surgery for Fx
Paget's Disease
Heightened osteoclast activity producing excess bone without good structural integrity

Pt over 50, regional and genetic

Bony deformities (kyphosis, coxa varus, bowing, vertebral compresson)

Skull, pelvis, femur, spine and tibia most common sites

Sx: MSK pain, vertigo, hearing loss, mental loss, fatigue, increased cardiac output and subsequent heart failure

Tx: biphosphonates to inhibit bone resorption. Exercise, weight control and cardiac fitness maintain strength and motion