Renal Pathology

Question 1

Hartnup Disease

Answer 1

Autosomal recessive
Deficiency of NEUTAL amino acid transporter (tryptophan) in the PCT and the enterocytes –> aminoaciduria and dec. absorption in gut –> no tryptophan to make niacin –> pellegra-like sx (dementia, dermatitis, diarrhea, death)
tx: high protein diet, and nicotinic acid

Question 2

Fanconi Syndrome

Answer 2

Renal PCT resorptive defect 
Results in inc. excretion of nearly all AA, glucose, HCO3-, PO4-
May result in metabolic acidosis 
Causes:
- Hereditary : Wilsons disease, tyrosinemia, glycogen storage disease
- Nephrotoxin/drugs
- Lead poisoning
- multiple myeloma 
- ischemia

Question 3

Barter syndrome

Answer 3

Similar to taking a LOOP diuretic

Autosomal recessive

Question 4

Gitelman syndrome

Answer 4

Equivalent to taking a thiazide

Autosomal dominant

Question 5

Liddle Syndrome

Answer 5

Too much aldosterone

Autosomal dominant

Question 6

Primary Hyperaldosteroniema

Answer 6

Adrenal Tumor
Excess secretion of aldosterone
Triad: hypokalemia, hypertension, metabolic alkalosis, also have low renin

Question 7

Secondary Hyperaldosteroniema

Answer 7

Due to a low BP or preceived low BP

• CHF
• Renal artery stenosis
• dec in oncotic pressure (inc. in ECF–> inc. renin)

Question 8

Hyperkalemic States (k+ shifted out of the cell)

Answer 8

Digitalis (blocks the Na/K+ atpase)
Hyperosmolarity 
Cell lysis 
Acidosis 
B-blocker
High sugar level (insulin deficiency )
" DO LABS"

Question 9

Hypokalemia (shifts K + into the cell)

Answer 9

Hypo-osmolarity 
Cell proliferation (cancer)
Alkalosis 
B-adrenergic agonists (inc. NA/K+ atpase)
Insulin (Inc. Na/K atpase)