Diseases 2

Question 1

cholesterol uptake is disrupted; defect in gene for LDL receptor; atherosclerotic plaques due to high LDL

Answer 1

Familial Hypercholesterolemia

Question 2

defects in assembly of peroxisome; 12 genes; usually death within first year of life

Answer 2

Zellweger Spectrum Disorders

Question 3

NER (Nucleotide Excision Repair) deficiency; sensitivity to light, more likely to get melanomas and squamous cell carcinoma; cyclobutane dimers form in the DNA

Answer 3

Xeroderma Pigmentosum

Question 4

inherited defects in one of the alleles of the MER (Mismatch Excision Repair) complex ; increased susceptibility to the cancers

Answer 4

Hereditary Nonpolyposis Colorectal Cancer

Question 5

rare autosomal recessive; ERCC6 and ERCC8 involved in TCR (Transcription Coupled Repair); growth retardation, sensitivity to sunlight, skeletal abnormalities; dead by 20

Answer 5

Cockayne’s Syndrome

Question 6

Double stranded repair problem; BRCA1 and BRCA2 are tumor suppressor genes; higher chance of all cancers especially breast

Answer 6

BRCA Genes

Question 7

missense mutation; substitute Valine (GTG) for Glutamic Acid (GAG); alters HbA leading to rigid structure with poor O2 capacity

Answer 7

Sickle Cell Anemia

Question 8

OOF deletion (frameshift) in dystrophin gene; little/no dystrophin protein; muscle wasting and death via respiratory failure

Answer 8

Severe Duchenne Muscular Dystrophy

Question 9

In frame deletion (frameshift) in dystrophin gene; truncated dystrophin protein; muscle replaced with fat and fibroid, elevated creatine kinase (CK)

Answer 9

Becker Muscular Dystrophy

Question 10

Lysosomal storage disease (severe); defective tagging of M6P so buildup in cytoplasm; failure to thrive and developmental delays (6 months)

Answer 10

I Cell Disease

Question 11

Buildup of amyloid beta peptide (AB) plaques; Hyperphosphorylation of Tau (intracellular) both contribute

Answer 11

Alzheimer’s Disease (AD)

Question 12

Aggregation of alpha synuclein (AS) protein forms insoluble Lewy bodies in dopaminergic neurons in the substantia nigra; leads to decreased dopamine available

Answer 12

Parkinson’s Disease (PD)

Question 13

mutation in huntington gene leads to CAG triplet repeats; results in polyglutamine repeats and abnormal HTT protein; selective death of cells in basal ganglia

Answer 13

Huntington’s Disease (HD)

Question 14

misfolding of prion proteins; transmissible and infects normal proteins; TSEs (spongiform)

Answer 14

Creutzfeldt-Jacob Syndrome (CJD)

Question 15

AI disorder in which TSI binds and overstimulates TSH receptors leading to increased T3 and T4

Answer 15

Grave’s Disease

Question 16

toxin binds alpha of Gs and activates continuously; adenylate cyclase on constantly making cAMP; Cl- channels open and diarrhea

Answer 16

Cholera Toxin

Question 17

Toxin binds alpha of Gi and prevents activation; less inhibition of adenylate cyclase; too much cGMP and mucous in airway

Answer 17

Pertussis

Question 18

(XO); short female, don’t ovulate (puberty); CV defects; normal intelligence (Non-disjunction)

Answer 18

Turner Syndrome

Question 19

(XXY); primary hypogonadism (low T), undescended testicles, man boobs, tall, varying level of social abilities, infertile

Answer 19

Klinefelter Syndrome

Question 20

trisomy 21; increased risk w/ maternal age; also robertsonian translocation or mosaic

Answer 20

Down’s Syndrome

Question 21

trisomy 13; perinatal death within one week; severe abnormalities

Answer 21

Patau Syndrome

Question 22

trisomy 18; abnormal development; most perinatal death in one year

Answer 22

Edward’s Syndrome

Question 23

Paternal is deleted and maternal is imprinted; behavior problems, intellectual disabilities, obesity, and small feet

Answer 23

Prader-Willi Syndrome

Question 24

Maternal is deleted and paternal is imprinted; severe developmental delays; happy demeanor

Answer 24

Angelman Syndrome

Question 25

degeneration of retinal ganglion cells; acute or subacute loss of central vision; Mitochondrial disorder

Answer 25

Leber's Hereditary Optic Neuropathy (LHON)

Question 26

affects many body systems (brain, NS, muscles), stroke and dementia, lactic acidosis; mitochondrial disorder

Answer 26

Mitochondrial encephalopathy, lactic acidosis, and stroke like episodes (MELAS)

Question 27

hypertrophy b/w stomach and duodenum; more common in males b/c lower threshold

Answer 27

Pyloric Stenosis

Question 28

Variable expressivity; leads to tumors in brain and spinal cord; patients have pigmented spots on skin

Answer 28

Neurofibromatosis

Question 29

Autosomal dominant; affects ankyrin complex; defective anchor points causing the membrane to detach and peel off

Answer 29

Hereditary Spherocytosis

Question 30

Autosomal dominant; spectrin-spectrin lateral bonds and spectrin-ankyrin bonds are defective; membrane fails to rebound and progressively elongates

Answer 30

Hereditary Elliptocytosis

Question 31

HbS at AA position 6 of Beta-globin (Glu->Val); hemoglobin polymerizes

Answer 31

Sickle Cell Anemia

Question 32

Organ dysfunction due to iron overload (cirrhosis, arthritis, etc.; 60s); autosomal recessive; mutations in HFE gene; dysregulation of iron uptake and export

Answer 32

Hereditary Hemochromatosis

Question 33

Lack of intrinsic factor; another megaloblastic macrocytic anemia

Answer 33

Pernicious Anemia

Question 34

Hyberbilirubinemia; imbalance between production and excretion of bilirubin

Answer 34

Jaundice

Question 35

Increased production of unconjugated BR; normal ALT and ASThemolytic anemias, hemorrhage; Glucose-6-Phosphate Deficiency

Answer 35

Pre-Hepatic Jaundice

Question 36

Impaired hepatic uptake, conjugation, or secretion of conjugated BR; increases in unconjugated and conjugated BR, ALT, and AST; normal uribilinogen levels, conjugated BR in urine; liver cirrhosis, Gilbert and Criggler-Najjar syndromes

Answer 36

Intra-Hepatic Jaundice

Question 37

Problem with BR excretion; obstruction, gall stones, drugs; elevated conjugated BR, normal AST and ALT, Conjugated BR in urine (dark); no urobilin or stercobilin in feces and urine

Answer 37

Post-Hepatic Jaundice

Question 38

elevation of unconjugated bilirubin (physiological); immature hepatic metabolic pathways; deficiency of UDP-GT enzyme; breakdown of HbF

Answer 38

Neonatal Jaundice; treat with phototherapy

Question 39

deficiency of UDP-GT; type 1 is complete absence of gene; BR accumulates in brains of babies (encephalopathy); benign due to mutation in UDP-GT gene

Answer 39

Criggler-Najjar Syndrome

Question 40

Common, benign, reduced activity of UDP-GT (25%)

Answer 40

Gilbert Syndrome

Question 41

Inflammation of liver, increased unconjugated and conjugated, accumulation of BR in skin and sclera

Answer 41

Hepatitis

Question 42

Too many RBCs made; 3 types

Answer 42

Polycythemia

Question 43

Bone marrow is normal, but is responding to low O2 levels

Answer 43

Secondary Polycythemia

Question 44

Normal bone marrow; resulting from altitude changes; lung and heart disease

Answer 44

Physiologic Polycythemia

Question 45

Bone marrow is making RBCs inappropriately

Answer 45

Polycythemia Vera (Primary)

Question 46

Large amounts of ferric iron (Fe3+) in the heme; cannot bind oxygen so behaves like anemia; the other chains have increased affinity for O2 and will not release it

Answer 46

Methemeglobinemia