Lipid diseases

Question 1

Niemann-Pick

Answer 1

deficiency of A-SMase

Hepatomegaly, Splenomegaly, Neurological Damage, Hallmark “cherry red spot” in eye,

Question 2

Erythroblastosis Fetalis

Answer 2

Incompatibility between blood for mother and fetus with D antigen (pH factor).

Question 3

Spur Cell Anemia

Answer 3

Elevated levels of cholesterol bound to rbc membrane

RCs break their membranes when passing through capillaries of spleen

Question 4

Cystinuria

Answer 4

Autosomal recessive disorder caused by defect in transporter for uptake of cystine and other dibasic amino acids such as arginine, lysine, and ornithine. Think COLA (Cystinuria: Ornithine, Lysine, and Arginine)

Question 5

Cystic fibrosis

Answer 5

Mutation in CFTR (cystic fibrosis transmembrane conductive regulator) gene. CTFR protein is a chloride ion channel that mediates the active transport of Cl- from inside cells to outside in airways and sweat ducts
Buildup of Cl- inside airway epithelial cells resulting in thicker mucous that leaves pt susceptible to bacterial infxs