Clinical Relevance Of Cell Membranse And Transport Flashcards
1
Q
Describe Niemann-Pick Disease
A
- Deficiency in acid sphingomyelinase
- leads to accumulation of spingomyeline in spleen, liver, CNS.
- hepatomegaly, splenomegaly.
- Characterized by hallmark CHERRY RED SPOT
2
Q
What is the role of phosphatidylserine? Where is it normally found?
A
- during apoptosis, PS serves as a tag for apoptotic mechanisms. Found in the outer leaflet here.
- normally found in inner leaflet.
3
Q
Describe the antigens found on ABO blood cells by group.
A
- Type O: H antigen —> universal donor
- Type A: A antigen
- Type B: B antigen
- Type AB: A and B antigen —> universal acceptor
4
Q
What is hemolytic disease of the newborn (erythroblastosis fetalis)?
A
- mom is Rh- and fetus is Rh+ (expresses D antigen). Antibodies attack fetus.
5
Q
Describe Spur Cell Anemia
A
- type of hemolytic anemia.
- elevated levels of cholesterol in cell membrane
- Decreases fluidity of membrane. RBC’s develope acanthocytes and lyse as they pass through capillaries of spleen
6
Q
Describe Cysteinuria and its pattern of inheritance
A
- defect in transporter that uptakes cystine
- formation of cystine crystals in kidney
- autosomal recessive disorder
7
Q
Describe Hartnup Disease and its pattern of inheritance
A
- defect in transporter for nonpolar amino acids (alanine, tryptophan)
- failure to thrive, cerebellar ataxia and PHOTOSENSITIVITY
- triggered by sunlight
8
Q
How do cardiotonic drugs, like cardiac glycosides, function?
A
- they inhibit the Na+/K+ATPase in cardiac myocytes
- increase in intracellular Na+
- this impairs the sodium calcium exchanger, leading to buildup of calcium inside the cell, leading to contraction.
9
Q
Describe Cystic Fibrosis and pattern of inheritance
A
- mutation in CFTR gene. Autosomal recessive disorder
- this makes chloride ion channel in airways dysfunctional, leading to buildup of Cl- in airway epithelial cells drawing water into cells with it. Leads to bacterial infections as well.
