Renal-Tubular Function And Defects Flashcards

1
Q

Fanconi Syndrome is defined as an issue in which location

A

Proximal tubule

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2
Q

During fanconi syndrome, what is the only which kind of transport can happen

A

Passive transport

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3
Q

What are the things not being reabsorbed in Fanconi syndrome

A

Glucose
Amino Acids
Phosphate, lactate, citrate
Bicarbonate

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4
Q

What are the clinical features of fanconi syndrome

A
  • Hypovolemia
  • Polyuria, polydiopsia
  • Hypophosphatemic rickets and osteomalacia
  • type 2 renal tubular acidosis
  • Hypokalemia, phosphatemia,
  • Hyperuricosuria
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5
Q

Which cell type renal acidosis is seen in fanconi syndome

A

Type 2

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6
Q

What is the state of chloremia in fanconi syndome

A

Hyperchloremia due to the bicarb loss

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7
Q

Which crystals can be seen in fanconi syndrome

A

Gout and uremic crystals

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8
Q

The drugs gliflozins can simulate which condition

A

Glycosidia since the mechanism of action is to block the SGLT2 (sodium glucose transporter)

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9
Q

What is the treatment for fanconi syndrome

A
  • Replace the lost substrates
  • Give citrate for the acidosis
  • minimize intake of cystesine, tyrosine, galactose and copper
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10
Q

Barter syndrome is a defect in which part

A

Thick ascending limb

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11
Q

Barter syndrome mimicked which class of drugs

A

Loop diuretics

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12
Q

The classical Bartter’s syndrome is which defect

A

Chloride channel CLCNKB

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13
Q

How can Bartter syndrome first be found

A

Polyhydramnios as a neonate week 24-30

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14
Q

What is the treatment for Bartter syndrome

A

Life long increases in dietary sodium, potassium and potassium sparing diuretics

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15
Q

What is the effect of NSAIDs on Bartter syndrome

A

Can help to correct it

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16
Q

What is the mechanism of action on the use of NSAIDs in Bartter syndrome

A

Because.the loss of ions occuring before the macula densa, it is detected and results in the incrased in renin release. NSAIDs will block the PGE2 production by the macula densa and prevent more electrolyte abnormalities

17
Q

Which ions/stuff are lost in Bartter syndrome

A
  • Sodium
  • Potassium
  • calcium
  • magnesium
  • uric crystals
18
Q

What is the state of pH of the blood in Bartter syndome

A

Hypochloremic metabolic alkalosis

19
Q

What is the state of the urine in Bartter syndrome

A

Isotonic urine

20
Q

Why does Bartter syndrome cause hyperglycemia

A

Because we are losing potassium, yet it is needed to uptake glucose into the cells

21
Q

Which part of the tubule is defective in Gitelman

A

Distal convoluted tubule

22
Q

Which transporter is affected in Gitelman syndrome

A

Sodium/chloride symporter

23
Q

Which drugs does Gitelman syndrome mimic

A

Thiazide diuretics

24
Q

Which ions are lost in Gitelman syndrome

A
  • Sodium
  • Potassium
  • magnesium
  • chloride
25
Q

What is the state of the pH in the blood during Gitelman syndrome

A

Hypochloremic metabolic alkalosis

26
Q

How can Gitelman syndrome and Barter syndrome be differentiated

A

Bartter- hypocalcemia

Gitelman-Hypercalcemia

27
Q

What is the state of the urine in Gitelman syndrome

A

Can be dilute or concentrated

28
Q

What are the treatment options for Gitelman syndrome

A

Taking in enough NaCl, with potassium and magnesium supplementation

29
Q

What is the effectiveness of NSAIDs on Gitelman syndrome

A

Not effective

30
Q

Liddle syndrome is defined by a deficiency in which portion

A

Collecting duct

31
Q

What is the pathogenesis of Liddle syndrome

A

ENaC channel does not degrade properly, resulting in increased sodium absorption and potassium loss

32
Q

Which conditions are normally found in a patient with Liddle syndrome

A

Pseudohyperaldosteronism with low plasma renin, low aldosterone, metabolic alkalosis, hypokalemia, hypernatremia leading to hypertension

33
Q

What is the condition of psedohyperaldosteronism

A
  • Failure to respond to aldosterone, leading to renal tubular acidosis and hyperkalemia
  • Aldosterone is actually elevated