physio postmidterm

Question 1

Familial renal glycosuria

Answer 1

SGLT mutation. Glucose not entering cells in early proximal tubule, not being reabsorbed in urine. Blood glucose would be normal -> no tx needed

Question 2

Cystinuria

Answer 2

Dibasic amino acid carrier defects in early proximal tubule

Question 3

Hartnup’s disease

Answer 3

Neutral amino acid carrier defects in early proximal tubule (Trp)

Question 4

NHE3

Answer 4

Early proximal tubule. Na+ and H+ exchanger. Main method of Na+ reabsorption. Upregulated by angiotensin II and NE

Question 5

NKCC2

Answer 5

Thick ascending loop of Henle, transports Na+, 2Cl-, K+. Upregulated by ADH (ROMK is also affected)

Question 6

Bumetanide and furosemide

Answer 6

Loop diuretics that block NKCC2 in thick ascending loop of Henle

Question 7

Bartter’s syndrome

Answer 7

Mutations in any of NKCC2, ROMK, or CLC-kb

Question 8

Gittelman’s syndrome

Answer 8

NCCT mutation in early distal tubule

Question 9

Thiazide diuretics

Answer 9

Block NCCT in early distal tubule

Question 10

Liddle’s syndrome

Answer 10

ENaC gain of fxn

Question 11

Pseudohypoaldosteronism (PHA)

Answer 11

ENaC loss of fxn

Question 12

ENaC

Answer 12

Collecting duct. Upregulated by aldosterone (ROMK also upregulated). Blocked by amiloride-like diuretic