Upgrade to remove ads
Only $2.99/month

Metabolic and Endocrine Disorders

Terms in this set (81)

Phenylketonutria (PKU)
deficiency of enzyme phenylalanine
Phenylketonutria (PKU)
elevation of serum phenylaline >6mg/dL
Tay-Sachs
common in Jews, tend to die before age 5
Tay-Sachs
defecient hexosaminidase A
Tay-Sachs
accumulation of gangliosides (GM2) in the brain
Tay-Sachs
autosomal-recessive
lysosomal storage disorder
Tay-Sachs
miss developmental milesones ~6mo followed by decline, mental retardation, paralysis
Phenylketonutria (PKU)
autosomal-recessive
amino acid/organic acid metabolic disorder
Phenylketonutria (PKU)
mental retardation, gait disturbances, hyperactivity, psychosis, abnormal body odor, lighter colored features compared to parents
Wilson's Disease
autosomal-recessive
hepatolenticular degeneration
Wilson's Disease
eastern Europeans, Sicilians, and southern italians
Wilson's Disease
defect in metabolizing copper leading to excess accumulation in the brain, liver, cornea, kidney, ..
Wilson's Disease
Kayser-Fleischer
Kayser-Fleischer
rings around the iris
Wilson's Disease
degenerative changes (basal ganglia), hepatitis, cirrhosis of liver, athetoid movements, ataxic gait patterns
Metabolic Alkalosis
pH > 7.45
Metabolic Alkalosis
increase in bicarbonate or abnormal loss of acids
Metabolic disorders and diuretics
risk of potassium depletion
Metabolic Acidosis
pH < 7.35
Metabolic Acidosis
accumulation of acids or bicarbonate loss
Metabolic Alkalosis
continuous vomiting, antacid/alkaline ingestion, diuretic therapy, hypokalemia, nasogastic suctioning
Metabolic Acidosis
compensatory hyperventialation, vomiting, diarrhea, headache, weakness, malaise, hyperkalemia, cardiac arrhythmias
Trousseau's sign
indicates calcium deficiency
Trousseau's sign
inflate BP cuff above SBP for 3 minutes
abnormal response from hypocalcemia and subsequent neuromuscular irritability will induce spasm of the muscles of the hand and forearm
Trousseau's sign
The wrist and metacarpophalangeal joints flex, the DIP and PIP joints extend, and the fingers adduct
Osteomalacia
calcium or phosphorus defeciency
Osteomalacia
loss of calcium due to poor intestinal absorption
Osteomalacia
loss of phosphorus due to increased renel excretion
Osteomalacia
thoracic kyphosis, LE bowing,
Osteoporosis
decrease in bone mass
Osteoporosis
loss of lumbar lordosis, kyphosis, dowager's hump
Dowager's hump
more than 40-45 degrees off normal axis
Dowager's hump
dignified elderly woman
Paget's disease
heightened osteoclast activity
Paget's disease
bone appears enlarged but lacks strength
Paget's disease
genetic component & geographic incidence
Paget's disease
musculoskeletal pain, kyphosis, coxa vera, bowing of long bones, vertebral compression
Hypothalamus
body temperature, thirst, appetite, sweating, sexual behavior, rage, fear, BP, sleep
Pituitary gland
endorphins, controls ovulation, catalyst for testes and ovaries to create sex hormones
Thyroid gland
thyroxine and triiodothyrone
Thyroid gland
controls the rate at which cells burn fuel for food
Parathyroid gland
produces a hormone is an antagonist to calcitonin, maintains normal calcium and phosphate levels in blood
Adrenal gland
adrenal medulla and adrenal cortex
Adrenal medulla
inner portion produces epinephrine that increases HR and BP with stress
Adrenal cortex
outer portion produces corticosteroids to regulate water and sodium balance, response to stress, immune system, sexual development and function, metabolism
Pineal gland
produces seratonin derivative (melatonin)
Pancreas
glucagon and insulin
Ovaries
estrogen and progesterone
Estrogen
secreted by ovarian follicles, responsible for female sex characteristics, breast development, female reproductive cycles
Progesterone
produced by corpus luteum, maintains lining of the uterus
Testes
secrete androgens (testosterone) regulate body changes and support production of sperm
Hypopituitarism
short stature (dwarfism), delayed growth and puberty, sexual/reproductive disorders, diabetes insipitus
Hyperpituitarism
gigantism/acromegaly, hirsutism, galactorrhea, amenorrhea, infertility, impotence
Hypopituitarism
bilateral hemianopsia, orthostatic HypoTN may happen
Addison's Disease
hypofunction of the adrenal cortex
Addison's Disease
decreased production of cortisol and aldosterone
Addison's Disease
hypotension, weakness, anorexia, weight loss, altered pigmentation, electrolyte imbalances
Cushing's Syndrome
hyperfunction of the adrenal gland
Cushing's Syndrome
excessive cortisol production
Cushing's Syndrome
pituitary gland produces excessive adrenocorticotropic hormone (ACTH)-> hypercortisolism
Cushing's Syndrome
persistent hyperglycemia, growth failure, truncal obesity, purple abdominal striae, moon shaped face, buffalo hump, HTN, acne, male gynecomastia, mental changes
Hypothyroidism
fatigue, weakness, decreased HR, weight gain, constipation, delayed puberty, retarded growth and develioment
Hypothyroidism
can be caused by Hasimoto't thyroiditis
Hyperthyroidism
increase in nervousness, excessive sweating, weight loss, increase in BP, exophthalmos, myopathy, chronic periarthritis, enlarged thyroid gland
Graves disease
hyperthyroidism
Graves disease
autoimmune disease common women over 20
Graves disease
enlargement of thyroid gland (goiter), heat intolerance, nervousness, weight loss, tremor, palpitations
Rhabdomyolysis
is a condition in which damaged skeletal muscle tissue rapidly, Breakdown products of damaged muscle cells are released into the bloodstream; some of these, such as the protein myoglobin, are harmful to the kidneys and may lead to kidney failure
Hypoparathyroidism
hypocalcemia, seizures, cognitive effects, short stature, tetany, muscle spasms/pain
Hyperparathyroidism
renal stones and kidney damage, depression, memory loss, muscle wasting, bone deformity and myopathy
Hyperparathyroidism
lack of hormone leads to disruption of calcium, phosphate and bone metabolism
Male hypogonadism
primary reason- decreased testosterone due to testes not responding to FSH and LH
Male/Female hypogonadism
secondary reason hypothalamus and/or pituitary dont produce their hormones GTRH, LH & FSH
Male hypogonadism
Klinefelter syndrome
Hypothalamus
GnRH
Pituitary gland
LH and FSH
LH
theca and interstitial cells-> progestins and androgens
FSH
precursor steroids->estrogen
Female hypogonadism
Turner syndrome
Female hypogonadism
not enough sex steroids to supress LH and FSH
Turner syndrome
absence of two complete copies of the X chromosome in some or all the cells
THIS SET IS OFTEN IN FOLDERS WITH...