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Question 1

what are the hallmarks of nephrotic syndtome

Answer 1

1. proteinuria -
2. hypoalbuminemia
3. hyperlipidemia (because albumin usually inhibits lipid synthesis so when it is decreased more lipids are synthesised)
4. odema (due to reduced oncotic pressure by albumin)

Question 2

tay sachs disease

Answer 2

is a sphingolipidoses, causes neurodegenration as it destroys nerve cells in the brain and spinal cord.
enzyme deficient is hexominidase A

Question 3

hand shuller christian disease

Answer 3

proliferation of langerhan cells which form granulomas. it mainly affects the bones typically sphenoid- leads to exophalmthmos which is a bulging of the eyes, also can cause deafness and diabetes inspidus

Question 4

glycogen storage diseases

Answer 4

abnormal metabolism of glycogen
3 main subgroups
hepatic - due to a deficiency in the enzyme required to break down glycogen e.g glucose 6 phosphatase or deficiency in enzymes required for the synthesis of glycogen
myopathic - 1. accumulation of glycogen in the muscles, like in mcardles disease

other; does not involve other 2

type 1- von gierk
type 2 - pompe
type 3 - forbes
type 4 - anderson 
5- mcardle