general 2

Question 1

gaucher disease is caused by deficiency in what enzyme?

Answer 1

deficiency in glucocerebrosidase which results in progressive accumulation of glucocerebrosidase within lysosomes of histiocytes

Question 2

most affected organs in gaucher

Answer 2

bone marrow, spleen, liver

Question 3

morphological findings in gaucher cells are

Answer 3

large histiocytes with their cytoplasm engorged with glycolipid

ashkenazi jews

Question 4

best treatment for gaucher disease

Answer 4

enzyme replacement therapy - imiglucerase

Question 5

patient presents with all of the signs of severe pyelonephritis, plus the CT scan of the abdomen shows air in the right renal parenchyma, plus patient is a diabetic

dx?

Answer 5

emphysematous pyelonephritis

Question 6

name some causes of nephrotic syndrome

Answer 6

DM, hepatitis B or C, lupus, amyloidosis, drugs/toxins, syphillis

Question 7

name the characteristics of nephrotic syndrome

Answer 7

proteinuria >3.5g/day, edema, hypoalbuminemia, hyperlipidemia

Question 8

patients with recurrent nephrolithiasis should undergo which test and why?

Answer 8

a complete metabolic eval to determine the risk factors for stone formation, 24 hour urine for calcium, citrate, oxalate, and creatinine.

Question 9

Hep b related kidney problem

Answer 9

Membranous nephropathy

Question 10

Hiv related kidney problem

Answer 10

Focal segmental glomerular nephritis