Block 3 Pathology

Front 1

cystinuria

Back 1

defect in cystine resorption at the kidneys > high [cystine] in urine > precipitates in urinary tracts/system

Front 2

thrombocytopenia

Back 2

lack platelets

Front 3

hemopehlia

Back 3

(A) lack factor viii, (B) lack factor ix

Front 4

kernicterus

Back 4

damage to neurons in babies caused by elevated bilirubin because BBB is not fully developed, will cause neurological problems and lethargy in infants

Front 5

neonatal jaundice

Back 5

elevated bilirubin due to 1. high fetal RBC, 2. premature liver, 3. lysing of RBC by mom antibody; treated with phototherapy to break down products

Front 6

jaundice

Back 6

elevated bilirubin

Front 7

icterus

Back 7

same as jaundice

Front 8

thrombophilia

Back 8

hypercoagulation, can be hereditary or acquired

Front 9

caput medusae

Back 9

engorged umbilical veins, radial pattern around the umbilicus; can be caused by portal hypertension

Front 10

pancreatic divisum

Back 10

duct of santorini does not close, so pancreatic secretions can end up in a blind pouch, leading to chronic pancreatitis

Front 11

gilbert's syndrome

Back 11

lower activity of conjugating enzyme, so elevated levels of unconjugated bilirubin

Front 12

crigler-najjar

Back 12

defect in gene for bilirubin conjugation

Front 13

cholestasis

Back 13

obstruction of biliary duct

Front 14

cholelithiasis

Back 14

gallstones

Front 15

hemachromatosis

Back 15

underactive hepcidin, leading to excess Fe in blood

Front 16

pernicious anemia

Back 16

B12 deficiency due to lack of intrinsic factor and loss of parietal cells, impairs ability to produce RBCs

Front 17

klinefelter's syndrome

Back 17

XXY, most common sex disorder, male, but reduced fertility, small testicles

Front 18

zellwegers

Back 18

defect in peroxisomes render inability to beta-oxidize very-long chain fatty acids > accumulates > neuronal damage

Front 19

adrenoleukodystrophy

Back 19

x-linked; mutation in transport protein prevents fatty acid from entering peroxisome, leads to accumulation of long-chain fatty acids (like zellwegers); treatment- diet with short-chain FA

Front 20

protein energy malnutrition

Back 20

insufficient protein or energy-producing nutrients; a) edematous (kwashiorkor); b) non-edmatous (marasmus)

Front 21

phenylketonuria

Back 21

defect in PAH, deficiency in reductase, or deficiency in BH4 synthesis; characterized by musty/mousy smell; autosomal recessive results in mental retardation (high phenylalanine is toxic)

Front 22

alkaptonuria

Back 22

standing urine turns black (oxidizes); autosomal recessive; cartilage/sclera darken, arthritis, harmless

Front 23

maple syrup urine

Back 23

autosomal recessive; defect in alpha-keto acid dehydrogenase; unable to oxidize long-chain keto acids (leucine/valine) > accumulation leads to metabolic acidosis and CNS toxicity > death; treatment -- diet low in leucine/valine

Front 24

wolmans disease

Back 24

defective cholesterol esterase > accumulation of cholesterol esters and TAGs > high cholesterol levels

Front 25

i-cell disease

Back 25

defective GluNAc transferase > disables targeting of enzymes to lysosome > enzymes end up in bloodstream; treatment- administer properly-formed enzymes

Front 26

tay-sachs disease

Back 26

defective HEXA enzyme, cannot degrade GM2 (used primarily by neurons) > accumulation leads to neuron cell death; autosomal recessive; screening with HEXA/HEXB activity enzyme- HEXB is stable at high temp, but not HEXA; delayed onset occurs if partial defectiveness, due to longer time to accumulation; classic sign- cherry red spot in retina

Front 27

hunter syndrome

Back 27

defective lysosomal enzyme for GAG degradation leads to accumulation of GAG; x-linked recessive; signs- big head, big abdomen

Front 28

hyperuricemia

Back 28

elevated blood uric acid

Front 29

lesch-nyhan syndrome

Back 29

defective enzyme prevents salvage of purines > leads to elevated uric acid > gout; x-linked recessive; uric acid crystals that are excreted are orange

Front 30

gout

Back 30

urate crystals cause arthritis/inflammation

Front 31

pseudogout

Back 31

elevated Ca2+ levels > Ca2+ crystal deposition > arthritis

Front 32

SCID

Back 32

defective degradation of dATP results in immunocompromised subject

Front 33

hereditary orotic aciduria

Back 33

elevated orotic acid in urine; autosomal recessive; can cause megaloblastic anemia, failure to thrive, inhibit DNA/RNA synthesis

Front 34

vernicus cephalopathy

Back 34

B1 deficiency due to vomiting

Front 35

abetalipoproteinemia

Back 35

inability to absorb fats due to inability to secrete chylomicrons, leads to hypolipidemia and engorged enterocytes; symptoms -- impaired absorption of DAKE, fat, failure to thrive, steatorrhea

Front 36

van gierke disease

Back 36

defect in G6P transporter or G6phosphatase > unable to elevate blood glucose; treat with overnight glucose infusion or starch

Front 37

hyperchylomicronemia

Back 37

defect in lipoprotein lipase (LPL) > results in accumulation of chylomicrons in blood because cannot be cleared; symptoms -- 1. skin eruptions, 2. pancreatitis (chylomicrons stuck in pancreatic vessels, toxic); autosomal recessive

Front 38

tangier disease

Back 38

mutation in ABCA1 transporter > HDL levels very low b/c cannot transport cholesterol from tissues

Front 39

familial hypercholesterolemia

Back 39

mutation in LDL receptor prevents clearance of LDL from blood > elevated cholesterol; symptoms- 1. skin boils from deposition of cholesterol esters, 2. increased risk of MI, heart attack

Front 40

hyperlipidemia

Back 40

elevated LDL cholesterol; consequences- 1. atherosclerosis, 2. MI/heart attack, 3. diabetes

Front 41

homocystinuria

Back 41

elevated levels of homocysteine, increasing risk of CV disease

Front 42

acromegaly

Back 42

after epiphyseal plate has sealed; excessive GH causes thickening of skin, large hands

Front 43

gigantism

Back 43

excessive GH > very tall; can lead to acromegaly

Front 44

turner's syndrome

Back 44

XO; short stature; risk for abdominal aortic aneurysm; high risk for congential CV disorders; kidney abnormality

Front 45

laron syndrome

Back 45

defect in GH receptor

Front 46

idiopathic short stature

Back 46

normal GH levels, but insufficient for normal growth; can supplement with GH to grow taller

Front 47

graves' disease

Back 47

hyperactive synthesis of thyroid hormone, caused by antibody autoimmune reaction against TSHr, resulting in chronic stimulation and high colloid turnover; clinical signs -- goiter, high serum TH, tremors, sleep disturbance, bug-eyed (can affect vision), separation of nailbed; treatment -- anti-thyroid substances

Front 48

consumptive hypothyroidism

Back 48

very high D3 activity > rapid degradation/inactivation of T3 > hypothyroidism

Front 49

hemangioma

Back 49

congential, benign tumor of ECs

Front 50

creatinism

Back 50

extreme hypothyroidism, resulting in 1. mental retardation, 2. failure to thrive; treated with iodine or thyroxine; primary causes: 1. insufficient iodine, 2. no thyroid gland, 3. cannot synthesis TH

Front 51

congenital hypothyroidism

Back 51

partial/complete loss of thyroid function due to 1. defective thyroid, 2. defective TH; will result in mental retardation if not treated early

Front 52

hashimoto's disease

Back 52

autoimmune disorder against follicles > hypothyroidism and risk of thyroid lymphoma; clinical signs -- coarse hair, goiter, puffy face

Front 53

subacute thyroiditis

Back 53

inflammation/destruction of follicles causes hyperthyroidism > hypothyroidism after TH is depleted > resolves on its own in most patients

Front 54

thyroid hormone resistance

Back 54

mutation in TH receptor causes TH resistance > unable to provide feedback > TH levels remain high

Front 55

familial hypocalciuric hypercalcemia

Back 55

inactivating mutation (loss-of-function) in Ca2+ sensor > high PTH (no feedback) and low urine Ca2+ (kidney resorb all Ca2+)

Front 56

sarcoidosis

Back 56

non-caseating granulomas appear throughout the body; causes vitmain D dysregluation where macrophages convert to active form, 1,25(D)

Front 57

primary hyperparathyroidism

Back 57

overactive parathyroid gland > secretes excess PTH

Front 58

pseudohypoparathyroidism

Back 58

resistance to PTH, resulting in hypocalcemia and high PO4; causes -- congential, activating mutation of Ca2+ sensor in parathyroid gland; consequences -- skeletal defects

Front 59

albright's hereditary osteodystrophy

Back 59

osteodystrophy caused by resistance to PTH (shows high PO4, low Ca2+, high PTH); classic signs -- short stature, shortened 4th metacarpel

Front 60

osteodystrophy

Back 60

dystrophy (degenerative effect) of bone growth due to lack of nutrients

Front 61

osteomalacia

Back 61

defective bone mineralization of osteoid, resulting in softening of bones; caused by deficient vitamin D; symptoms --- aches, bone pain

Front 62

rickets

Back 62

softening of bones in children > bone deformation and fractures; classic sign -- bowing of the legs (genu valgum )( vs genu varus () ), short stature, frontal bossing of the skull; caused by vitamin D or calcium deficiency, also low PO4

Front 63

addison's disease

Back 63

atrophic adrenals > make insufficient steroid hormones; causes -- autoimmune destruction of adrenals

Front 64

cushing's syndrome

Back 64

hypertrophic adrenals > make excess glucocorticoids, primarily cortisol

Front 65

cushing's disease

Back 65

elevated cortisol due to pituitary adenoma secreting high amounts of ACTH

Front 66

congenital adrenal hyperplasia

Back 66

XX vague female; defective 21-hydroxylase (most common, type I) > a. no synthesis of aldosterone/cortisol, b. shunt to testosterone; effects -- XX makes female internal genitalia, but high testosterone affects external genitalia > ambigious genitalia in female (most common intersex problem); precocious puberty in males (?); masculinization in females (?)

Front 67

chlymydia

Back 67

bacterial infection, STD, causing scarring of fallopian tube; increases risk of ectopic pregnancy

Front 68

benign prostate hyperplasia

Back 68

normal part of aging, resulting in enlargement of prostate > can irritate bladder or compress urethra

Front 69

urge incontinence

Back 69

hyperactive bladder

Front 70

overflow incontinence

Back 70

hypoactive detrusor muscle, BPH prostate obstruction

Front 71

stress incontinence

Back 71

bladder pushed down, so internal sphincter not closing properly

Front 72

androgen receptor defect

Back 72

same as testicular feminization syndrome; cells (eg pituitary) cannot sense testosterone, so causes elevated synthesis of testosterone, which ends up being converted to estradiol > causes phenotype female

Front 73

familial male precocious puberty

Back 73

activating mutation in LH receptor > elevated testosterone synthesis > early puberty

Front 74

gynecomastia

Back 74

elevated androgens are converted to estrogen compounds > bind to estrogen receptors in male > overdeveloped breast tissue

Front 75

testicular feminization syndrome

Back 75

XY female appearance; defective androgen receptor cannot bind DHT; testes produce MIF > mullerican duct regression with intermal male genitalia, but external genitalia defaults to female; undescended testes usually removed due to risk of cancer

Front 76

5alpha-reductase deficiency

Back 76

XY female apperance; internal male genitalia, able to produce viable sperm, but unable to produce DHT > external genitalia default to female

Front 77

peyroine's disease

Back 77

connective tissue disorder causing curvature of penis, due to scarring of tunica albugenia

Front 78

priapism

Back 78

stuck erect penis at least 4 hours

Front 79

andropause

Back 79

decrease in testosterone due to aging; treatment -- testosterone therapy; contraindications -- prostate cancer

Front 80

anal atresia

Back 80

anal membrane does not disappear > no anal sphincter; occurs in 55% of VATER cases

Front 81

tracheoesophageal fistula

Back 81

distal esophagus attaches to trachea, proximal is a pouch > food ends up in the lungs

Front 82

pierre robin sequence

Back 82

primary defect is small jaw > pushes tongue backwards > disrupts closure of hard palate > cleft palate

Front 83

brachydactyly

Back 83

short fingers

Front 84

clinodactyly

Back 84

incurved fingers

Front 85

polydactyly

Back 85

extra finger

Front 86

phocomelia

Back 86

malformation of long bones, causing short limbs; can be caused by thalidomide (sedative that inhibits angiogenesis)

Front 87

coloboma

Back 87

hole in a part of the eye; can cause slit-like iris

Front 88

lisch nodules

Back 88

tumor-like bumps on eyelid due to neurofibromatosis type I

Front 89

waardenburg syndrome

Back 89

pigmentation anomalies, associated with neural crest problems

Front 90

hirschsprung's

Back 90

ganglion cells of a section of the gut are missing > leads to megacolon due to lack of peristalsis in that area

Front 91

brachio-oto-renal syndrome

Back 91

neck sinus and ear problem > associated with kidney problems

Front 92

skeletal dysplasia

Back 92

short limb/trunk

Front 93

campomelic dysplasia

Back 93

curvature of the long bones