Renal tubular defects FA 533 Flashcards Preview

USMLE > Renal tubular defects FA 533 > Flashcards

Flashcards in Renal tubular defects FA 533 Deck (5)
Loading flashcards...
1

Fanconi syndrome

where is the defect?
what are the results?
causes?

reaborptive defect in PCT
- results in metabolic acidosis -- proximal renal tubular aciosis

- causes include hereditary defects (wilson disease, tyrosinemia, glycogen storage disease) , ischemia, multiple myeloma, nephrotoxins/drugs, lead poisoning

2

Bartter syndrome

where is the defect?
causes?
what are the results?

- Reabsorptive defect in thick ascending loop of Helenle.
- Autosomal recessive affects NKCC transporter

hypokalemia, metabolic alkalosis with hypercalciuria

3

Gitelman syndrome

where is the defect?
causes?
what are the results?

Reabsorptive defect in NaCl in DCT
- Autosomal recessive (less severe than Bartter)
- hypokalemia, hypomagnesium, metabolic alkalosis, hypocalciuria

4

Liddle syndrome

where is the defect?
causes?
what are the results?
tx?

Gain of function mutation in Na+ channel in the collecting tubules
- Autosomal dominant
- hypertension, hypokalemia, metabolic alkalosis, decrease aldosterone

treatment: Amiloride

5

Syndrome of apparent mineralocorticoid excess

Causes?
What happens?
why does it happen?
Can you get this another way aka acquired?

Hereditary deficiency of 11 beta- hydroxysteroid dehydrogenase in mineralocorticoid receptor containing cells.

- 11 beta- hydroxysteroid dehydrogenase usually converts cortisol to cortisone.

Excess cortisol in cells = hypertension, hypokalemia, metabolic alkalosis, low aldosterone levels

acquired from glycyrrhetic acid (licorice)