biochem diseases

Question 1

hartnup disease

Answer 1

proximal tubbule lacking tryptophan transporter

niacin deificieny –> plegra

Question 2

fanconi syndrome

Answer 2

everything in prximal tube is fucked ( no absorption of AA, bicarb, glucose and phophate )
leads to polyuria and polydipsia, hypokalemia hypophospatemia
inherited form associated with cystonosis !! too much cyteine build up leading to fanconi syndrome

Question 3

cytinuria

Answer 3

primixal tubule fucked -cant absorb cysteine (not cysteineosis like fanconi syndrome )
Hexagonal crystals
COAL –> cysteine, ornithine, arginine, lysine

Question 4

acquired cases of fanconi syndrome due to ?

Answer 4

lead poisoning
multiple myelom a
drugs -cisplatin, aminoglycoside, defarasirox, tenofovir

Question 5

bartter syndrome

Answer 5

triple trasnport not present in ascending loop

Question 6

gitelman syndrome

Answer 6

Na cl transport not present in DCT