Diseases

Question 1

Barrett’s esophagus

Answer 1

in response to gastric acid reflux the squamous epithelial tissue of the lower esophagus experiences metaplasia to become goblet (glandular columnar epithelial) cells

Question 2

hemosiderosis

Answer 2

build up of hemosiderin (a break down product of hemoglobin) due to iron overload

Question 3

diaphoresis

Answer 3

excessive sweating

Question 4

pruritus

Answer 4

itching

Question 5

cachexia

Answer 5

muscle wasting

Question 6

differential diagnosis: hypotonia in an infant

Answer 6

neuromuscular disorder, sepsis, organ failure, metabolic dysfunction

Question 7

polyhydramnios

Answer 7

excess amniotic fluid in the amniotic sac

Question 8

hemophilia

Answer 8

a rare (usually inherited) blood disorder in which there is deficient clotting factor; in hemophilia A factor VIII is deficient, in hemophilia B factor IX is deficient

Question 9

phenylketonuria

Answer 9

an autosomal recessive metabolic disorder that leads to mental retardation and seizures; caused by a defect in phenylalanine hydroxylase which normally converts phenylalanine to tyrosine; phenylalanine accumulates and is converted to phenylketone which ends up in the urine

Question 10

Liddle’s syndrome

Answer 10

aka pseudoaldosteronism; caused by an autosomal dominant gain of function mutation in ENaC that leads to hyperactivity => hypertension and hypokalemia (which leads to metabolic alkalosis)

Question 11

hereditary hemochromatosis

Answer 11

excessive intestinal absorption of iron leading to iron overload

Question 12

fragile X syndrome

Answer 12

caused by CGG repeat on FMR (fragile x mental retardation gene) leading to neurological defects

Question 13

Klinefelter syndrome

Answer 13

caused by sex chromosome aneuploidy which confers an XXY genotype; these individuals are usually raised as male and suffer from hypogonadism and reduced fertility among other effects