Renal tubular defects

Question 1

Fanconi syndrome is a reabsorptive defect in what part of the nephron?

Answer 1

PCT

Question 2

Bartter syndrome is a reabsorptive defect in what part of the nephron?

Answer 2

Thick ascending limb of LoH

Question 3

Gitelman syndrome is a reabsorptive defect in what part of the nephron?

Answer 3

DCT

Question 4

Liddle syndrome is a reabsorptive defect in what part of the nephron?

Answer 4

DT and CD

Question 5

Which renal tubular defect is the equivalent of a genetic loop diuretic?

Answer 5

Bartter syndrome

Question 6

Bartter syndrome involves a mutation in what transporter? What’s the pattern of inheritance?

Answer 6

Na/K/2Cl transporter; AR

Question 7

Which renal tubular defect is the equivalent of a genetic thiazide diuretic?

Answer 7

Gitelman syndrome

Question 8

Gitelman syndrome involves a mutation in what transporter? What’s the pattern of inheritance?

Answer 8

Na/Cl transporter; AR

Question 9

What mutation underlies Liddle syndrome? Pattern of inheritance?

Answer 9

Increased activity of ENaC channels in DT/CD (causing increased Na resorption); AD

Question 10

How do you treat Liddle syndrome?

Answer 10

Amiloride

Question 11

What are 3 general causes of Fanconi syndrome?

Answer 11

Hereditary defects (like Wilson dz)
Ischemia
Nephrotoxins/drugs

Question 12

Which renal tubular defect results in hypokalemic metabolic alkalosis w/ hypercalciuria?

Answer 12

Bartter syndrome

Question 13

Which renal tubular defect results in hypokalemic metabolic alkalosis w/o hypercalciuria?

Answer 13

Gitelman syndrome

Question 14

Which renal tubular defect results in HTN, hypokalemia, metabolic alkalosis, and decr aldosterone?

Answer 14

Liddle syndrome

Question 15

Which renal tubular defect causes incr excretion of almost all aa’s, glc, HCO3, and PO4 and may cause metabolic acidosis?

Answer 15

Fanconi syndrome