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14 Cards in this Set

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cerebral oedema
hypotonic => water moves into the cell
GLUT 1
most tissues
GLUT 2
liver & pancreatic beta cells
GLUT 3
Brain
GLUT 4
skeletal, heart, adipose tissue
Cystic fibrosis
*most common in white person
*autosomal recessive disorder

*carriers = asymptomatic

*decreased secretion of chloride across epithelial cells
*increased reabsorption of Na+ & water across epithelial cells

*decreased hydration of mucus => mucus has increased viscosity and is difficult to clear

*defect in CFtransmembrane conductance regulator (CFTR)
---->encodes protein that functions as chloride channel
cystic fibrosis in lungs
chronic inflammation in lung

also in pancreas, GI tract, & other tissues

Dx => sweat test will show high sodium level in sweat
cholera (vibrio cholerae) acute illness
sudden onset of watery diarrhea w/ rice water appearance

massive loss of body fluid due to diarrhea & subsequent dehydration

Tx: rehydration



inhibit Na+ absorption channels in intestine, except Na+/glucose co-transporter

ORS Tx
familial hypercholesterolemia
defect in receptor - mediated endocytosis
duchenne muscular dystrophy: DMD
x-linked recessive disorder

dystrophin absent (damaged from tension & stress) => membrane leakage and muscle damage

progressive weakness & hypertrophy

usually wheelchair by 12 years of age

die of respiratory failure in late teens and early 20s

CK level => very high

no Tx
gene therapy? stem cell therapy?
gower's sign
weakness of proximal muscles (lower limbs mainly)

patient usually has to use own hands to walk up his own body from squatting position
becker muscular dystrophy
defect in dystrophin

dystrophin defect is mild

compared to DMD diagnosed late (progresses slowly and not affect walking under advanced age)

CK level => very high
hereditary spherocytosis
most common form of congenital haemolytic anaemia in n. europe

caused by deficiency of protein spectrin or ankyrin

autosomal dominant

spectrin deficiency => RBC is spherical, osmotically fragile, and short life-span


clinical features: anemia, jaundice, splenomegaly, gall stones
spectrin
protein which links plasma membrane to cytoskeleton

important in maintaining structural integrity of RBC membrane