Acid- Base

Question 1

Familial Hypercalcemic Hypocalciuria

Answer 1

Inactivated mutation in Ca sensing receptor

• calcium continues to get reabsorbed in TAL of Henle despite high serum ca
• no stones

Question 2

Bartter’s syndrome

Answer 2

5 types
- due to defects in TAL proteins effecting the paracellular reabsorption of Ca2 via paracellin
Type 5
- activating mutation in the CaSR
- Ca and Na wasting and at risk of kidney stones
- hypokalemic metabolic alkalosis –> hypotension and hypereninemic hyperaldosteronism

Question 3

aminoglycosides

Answer 3

cause Type V Bartter’s by activating Ca sensing receptor

• hypercalcliuria, Ca/Na wasting
• hypokalemic metabolic alkalosis –> hypotension and hypereninemic hyperaldosteronism

Question 4

Furosemide

Answer 4

works at TAL

- causes Ca and Mg wasting

Question 5

HCTZ

Answer 5

NaCl inhibitor in DCT - used for Ca stone formers

• Na depleted pts, Ca reabsorption occurs in prox tubules
• Na loaded pts, TRPV5 is increased and Ca reabsorption occurs in DCT

Question 6

Lithium

Answer 6

Raises threshold of Ca sensing receptor so higher calcium to turn of PTH secretion
- absorbed ENac so diuretics that block ENac can lower Lithium (amiloride)

Question 7

Gittelmans

Answer 7

NaCl channel dysfunction in DCT, blocks Mg reabsorption

Question 8

Familial hypomagnesemia with hypercalciuria and nephrocalcinosis

Answer 8

Inheritance: auto recessive
Etiology: loss of function CLDN16 mutation
Path: mutation prevents claudins from reaching membrane surface, decrease memebrane residence time or rendered functionless
Clinically: decreased PTH levels, urine acidification defect, hypocitraturia, hyperuricemia
–> cannot fix with Mg supplements and thiazides

Question 9

Hypoparathyroidism, Auto Dom

Answer 9

Activating mutation in CaSR, hypercalciuria and hypermagnesuria

Question 10

Auto Rec hypomagnesemia with secondary hypocalcemia

Answer 10

mutations in TRPM6, from PTH deficiency

Question 11

Auto dom hypomagnesemia

Answer 11

Mutation in KCNA1 codes for Kv 1.1

Question 12

Auto dom hypomagnesemia associated with hypocalciuria

Answer 12

FXYD2 mutation: encodes gamma-subunit of basolateral Na/K - ATPase

Question 13

Isolated auto rec hypomagnesemia with normocalciuria

Answer 13

EGF - stimulates TRPM6

- leads to Mg wasting

Question 14

Calcineurin inhibitors

Answer 14

Renal wasting, decreased TRPM6 –> hypomagnesemia

Question 15

Amphotericin B

Answer 15

Renal Mg wasting and hypomagnesemia after high dose

Question 16

Amiloride

Answer 16

Stimulates Mg reabsorption via membrane voltage hyperpolarization
- increases driving force of Mg entry

Question 17

Hyponatremia and hypernatremia

Answer 17

nausea, malaise, stupor, coma

irritability, stupor, coma

Question 18

Hypokalemia and hyperkalemia

Answer 18

U waves on ECG, flattened T waves, arrhythmias, muscle weakness

wide QRS, peaked T waves on ECG, arrhythmias, muscle weakness

Question 19

hypocalcemia and hypercalcemia

Answer 19

tetany, seizures

stones, bones, groans, psychiatric overtones

Question 20

hypomagnasemia and hypermagnasemia

Answer 20

tetany, arrhythmias

decr DTR, lethargy, bradycardia, hypotension, cardiac arrest, hypocalcemia

Question 21

hypophosph and hyperphosph

Answer 21

bone loss, osteomalacia

renal stones, metastatic calcifications, hypocalcemia