Renal tubular defects FA 533 Flashcards Preview

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Flashcards in Renal tubular defects FA 533 Deck (5)
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1
Q

Fanconi syndrome

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

A

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
Q

Bartter syndrome

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

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

hypokalemia, metabolic alkalosis with hypercalciuria

3
Q

Gitelman syndrome

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

A

Reabsorptive defect in NaCl in DCT

  • Autosomal recessive (less severe than Bartter)
  • hypokalemia, hypomagnesium, metabolic alkalosis, hypocalciuria
4
Q

Liddle syndrome

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

A

Gain of function mutation in Na+ channel in the collecting tubules

  • Autosomal dominant
  • hypertension, hypokalemia, metabolic alkalosis, decrease aldosterone

treatment: Amiloride

5
Q

Syndrome of apparent mineralocorticoid excess

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

A

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)