Renal-Tubular Function And Defects Flashcards
Fanconi Syndrome is defined as an issue in which location
Proximal tubule
During fanconi syndrome, what is the only which kind of transport can happen
Passive transport
What are the things not being reabsorbed in Fanconi syndrome
Glucose
Amino Acids
Phosphate, lactate, citrate
Bicarbonate
What are the clinical features of fanconi syndrome
- Hypovolemia
- Polyuria, polydiopsia
- Hypophosphatemic rickets and osteomalacia
- type 2 renal tubular acidosis
- Hypokalemia, phosphatemia,
- Hyperuricosuria
Which cell type renal acidosis is seen in fanconi syndome
Type 2
What is the state of chloremia in fanconi syndome
Hyperchloremia due to the bicarb loss
Which crystals can be seen in fanconi syndrome
Gout and uremic crystals
The drugs gliflozins can simulate which condition
Glycosidia since the mechanism of action is to block the SGLT2 (sodium glucose transporter)
What is the treatment for fanconi syndrome
- Replace the lost substrates
- Give citrate for the acidosis
- minimize intake of cystesine, tyrosine, galactose and copper
Barter syndrome is a defect in which part
Thick ascending limb
Barter syndrome mimicked which class of drugs
Loop diuretics
The classical Bartter’s syndrome is which defect
Chloride channel CLCNKB
How can Bartter syndrome first be found
Polyhydramnios as a neonate week 24-30
What is the treatment for Bartter syndrome
Life long increases in dietary sodium, potassium and potassium sparing diuretics
What is the effect of NSAIDs on Bartter syndrome
Can help to correct it
What is the mechanism of action on the use of NSAIDs in Bartter syndrome
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
Which ions/stuff are lost in Bartter syndrome
- Sodium
- Potassium
- calcium
- magnesium
- uric crystals
What is the state of pH of the blood in Bartter syndome
Hypochloremic metabolic alkalosis
What is the state of the urine in Bartter syndrome
Isotonic urine
Why does Bartter syndrome cause hyperglycemia
Because we are losing potassium, yet it is needed to uptake glucose into the cells
Which part of the tubule is defective in Gitelman
Distal convoluted tubule
Which transporter is affected in Gitelman syndrome
Sodium/chloride symporter
Which drugs does Gitelman syndrome mimic
Thiazide diuretics
Which ions are lost in Gitelman syndrome
- Sodium
- Potassium
- magnesium
- chloride
What is the state of the pH in the blood during Gitelman syndrome
Hypochloremic metabolic alkalosis
How can Gitelman syndrome and Barter syndrome be differentiated
Bartter- hypocalcemia
Gitelman-Hypercalcemia
What is the state of the urine in Gitelman syndrome
Can be dilute or concentrated
What are the treatment options for Gitelman syndrome
Taking in enough NaCl, with potassium and magnesium supplementation
What is the effectiveness of NSAIDs on Gitelman syndrome
Not effective
Liddle syndrome is defined by a deficiency in which portion
Collecting duct
What is the pathogenesis of Liddle syndrome
ENaC channel does not degrade properly, resulting in increased sodium absorption and potassium loss
Which conditions are normally found in a patient with Liddle syndrome
Pseudohyperaldosteronism with low plasma renin, low aldosterone, metabolic alkalosis, hypokalemia, hypernatremia leading to hypertension
What is the condition of psedohyperaldosteronism
- Failure to respond to aldosterone, leading to renal tubular acidosis and hyperkalemia
- Aldosterone is actually elevated
