Distal Renal Tubular disorders

Question 1

% sodium reabsorbed in PT?

Answer 1

65-70%

Question 2

% sodium reabsorbed in T.A.L.

Answer 2

25%

Question 3

% sodium reabsorbed in DT

Answer 3

5%

Question 4

Na transporter in TAL

Answer 4

NK2C co-transporter

Question 5

Na transporter in DT

Answer 5

Thiazide-sensitive co-transporter Na/Cl

Question 6

% sodium reabsorbed in CD

Answer 6

1-2% (by epithelial Na channel)

Question 7

Acetazolamide target

Answer 7

carbonic anhydrase

Question 8

Furosemide/bumetanide/ethacrynic acid target

Answer 8

NK2C cotransporter

Question 9

Thiazides target

Answer 9

Na-Cl cotransporter

Question 10

What targets epithelial sodium channels

Answer 10

amiloride and triamterene

Question 11

What targets the mineral corticoid receptor

Answer 11

spironolactone and eplerenone

Question 12

Hyperplasia of JG apparatus, elevated plasma renin and aldosterone

Answer 12

Bartter Syndrome

Question 13

Presentation of Bartter Syndrome

1) acid base status
2) potassium
3) aldosterone
4) renin
5) 2 other features

Answer 13

1) Hypochloremic met alkalosis,
2) hypokalemia,
3) hyperaldosteronism,
4) hyperreninemia,
5) elevated PGE2, failure to thrive

Question 14

Bartter treatment

Answer 14

potassium supplements, magnesium (also spironolactone)

Question 15

What presents with prenatal massive polyhydramnios (due to fetal polyuria)

Answer 15

Neonatal Bartter (also has massive salt wasting at birth)

Question 16

In neonatal Bartter, the amniotic fluid has elevated levels of

Answer 16

PGE2 (this is a target for treatment with COX inhibitors)

Question 17

Bartter Mutations (5)

Answer 17

NKC2, ROMK, CLCNKA, CLCNKB, Barttin

Question 18

What is barttin

Answer 18

Cl channel A/B inserter in kidney/inner ear

Question 19

Presentation of Gitelman Syndrome

1) acid base status
2) potassium
3) magnesium
4) calcium (blood/urine)
5) other feature

Answer 19

1) hypochloremic met alkalosis,
2) hypokalemia,
3) hypomagnesemia,
4) Hypercalcemia / hypocalciuria
5) (presents later in life with Normal growth)

Question 20

Gitelman mutation

Answer 20

Na-Cl co transporter of the DCT (thiazide sensitive)

Question 21

Liddle syndrome presentation

1) [main feature]
2) renin
3) aldosterone
4) potassium
5) acid base status

Answer 21

1) hypertension,
2) low renin,
3) low aldosterone,
4) hypokalemia,
5) met alkalosis

Question 22

Liddle syndrome closely resembles

Answer 22

Pseudohypoaldosteronism type 1

Question 23

mutation in Liddle

Answer 23

gain of function in the Beta or gamma subunit of the epithelial sodium channel (aldosterone sensitive channel, stuck open)

Question 24

Liddle treatment

Answer 24

salt restriction and diuretics

Question 25

causes of Hypokalemia

Answer 25

diuretics and hyperaldosteronism

Question 26

causes of hyperkalemia

Answer 26

hypoaldosteronism and pseudohypoaldosteronism

Question 27

TTKG tests what?

Answer 27

aldosterone response in the DT

Question 28

for TTKG, urine sodium must be?

Answer 28

greater than 25 mmol/L

Question 29

TTKG formula

Answer 29

[urine potass over plasma potass] divided by [urine osm over plasma osm]

Question 30

simplified TTKG formula

Answer 30

UK x Posm / PK x Uosm

Question 31

Normal range for TTKG

Answer 31

2-8

Question 32

Less than 2 on TTKG is?

Answer 32

hypokalemia

Question 33

greater than 4 on TTKG is?

Answer 33

hyperkalemia

Question 34

'Pitfalls' (what makes test invalid) of TTKG tests

Answer 34

1) urine Na less than 20 mEq/L | 2) urine osm less than 300 mOsm/kg

Question 35

Primary cause of hyperaldosteronism

Answer 35

adrenal tumor

Question 36

secondary causes of hyperaldosteronism

Answer 36

dehydration (pyloric stenosis), sodium wasting (Barterr-Gitelman)

Question 37

Genetic disorders that cause hyperaldosteronism

Answer 37

GRA, AME

Question 38

GRA mutation

Answer 38

recombination of 11BHSD and aldosterone synthase (at promoter)

Question 39

result/presentation of the GRA mutation

Answer 39

hypertension during stress

Question 40

GRA causes

Answer 40

low renin HTN and hypokalemia

Question 41

GRA treatment

Answer 41

glucocorticoids

Question 42

GRA stands for

Answer 42

Glucocorticoid Remediable hyperaldosteronism

Question 43

AME stands for

Answer 43

Apparent Mineralocorticoid Excess

Question 44

AME mutation

Answer 44

11BHSD

Question 45

AME results in

Answer 45

increase levels of cortisol (which activates the mineralocorticoid receptor), low renin HTN, hypokalemia

Question 46

AME treatment

Answer 46

glucocorticoids

Question 47

Hyperkalemic disorders

Answer 47

congenital adrenal hyperplasia/hypoplasia, autoimmune, PHA type 1 and 2, Tubular injury (obstructive uropathy)

Question 48

PHA Type 1 lab findings 1) potassium 2) sodium 3) prone to what 4) mirror image of what

Answer 48

1) hyperkalemia, 2) hyponatremia, 3) prone to severe volume depletion (hypotension), 4) mirror image of liddle syndrom

Question 49

Causes of PHA type 1

Answer 49

mutations in mineralocorticoid receptor and LOF mutation in the ENac (stuck shut)

Question 50

which PHA type 1 cause is recessive

Answer 50

LOF in ENac

Question 51

which PHA type 1 cause is auto dominant

Answer 51

mutations in M-C receptor

Question 52

Liddle syndrome mode of inheritance

Answer 52

auto dominant

Question 53

PHA type 1 treatment

Answer 53

sodium supplements, high fluid intake, K binding resin (kayexalate)

Question 54

PHA Type 2 presentation/lab findings 1) potassium 2) acid base status 3) blood volume 4) renin/aldo 5) mirror image of what

Answer 54

1) hyperK, 2) hypercloremic met acidosis, 3) HTN, 4) low renin/aldosterone, 5) mirror image of Gitelman

Question 55

PHA Type 2 also known as

Answer 55

Gordon syndrome or chloride shunt syndrome

Question 56

treatment for PHA type 2

Answer 56

thiazide diuretics

Question 57

PHA type 2 mutations

Answer 57

WNK1 and WNK4

Question 58

function of WNK's

Answer 58

serine-threonine kinases that regulate NCCT, the thiazide sensitive Na-Cl contransporter

Question 59

Plasma Anion Gap formula

Answer 59

Na- (Cl + HCO3)

Question 60

Normal range of plasma anion gap

Answer 60

8-20 at Le Bonheur, adults 10-12

Question 61

Causes of Elevated anion gap acidosis

Answer 61

ketoacidosis, lactic acidosis, inborn errors of metab (methylmalonic acidemia, propionic acidemia) and poisons (methanol/ethylene glycol)

Question 62

Causes of normal anion gap acidosis (hyperchlor met acid.) [according to Dr. Ault there are only 3]

Answer 62

1) G.I. losses of bicarbonate, 2) exogenous chloride (arginine HCl challenge, vol. expan. with NaCl), 3) renal tubular acidoses

Question 63

RTA anion gap?

Answer 63

normal

Question 64

which RTA is associated with Fanconi syndrome

Answer 64

type 2 (proximal)

Question 65

which RTA is very rare and presents with hypoK, hypocalciuria, nephrolithiasis, and Failure 2 Thrive

Answer 65

Type 1 (classic distal)

Question 66

which RTA is a syndrome of aldost. deficiency or unresponsiveness

Answer 66

Type 4

Question 67

how often does RTA present with diarrhea

Answer 67

almost never

Question 68

Tests for RTA

Answer 68

fractional excretion of bicarb, urine pH, urine anion gap, U-B pC02

Question 69

Fract. Excr. >10-15% in which RTA

Answer 69

proximal RTA aka type 2

Question 70

Fract. Excr.

Answer 70

classic distal RTA aka type 1

Question 71

fract. excr.

Answer 71

hyperkalemic RTA aka type 4

Question 72

Urine pH in classical distal RTA

Answer 72

greater than 5.5

Question 73

Urine pH in proximal RTA (if HCO3 is below threshold)

Answer 73

less than 5.5

Question 74

Urine anion gap

Answer 74

(UNa + Uk) - UCl

Question 75

if UAG is negative....

Answer 75

NH4 is present and the CD can secrete H ... also neg UAG during diarrhea

Question 76

UAG in proximal, type 1, and hyperkalemic RTA

Answer 76

positive

Question 77

can't use UAG in what conditions

Answer 77

DKA, ketoacidosis

Question 78

U-B pCO2 normal level

Answer 78

>10-15 mmHg

Question 79

U-B pCO2 is low in what type(s)

Answer 79

type 1 and 4

Question 80

high plasma K, positive UAG, low U-B pCO2

Answer 80

type 4

Question 81

low plasma K, pH >5.5, low U-B pCO2

Answer 81

type 1

Question 82

low plasma K, pH

Answer 82

type 2

Question 83

Type 4 RTA causes

Answer 83

primary M-C def., secondary M-C def. (diabetes, HIV), RT dysfunction (obstructive uropathy, Lupus nephritis), M-C resistance (pseudohypoaldosteronism)

Question 84

Hey dipshit, what's the anion gap in RTA?

Answer 84

it's fucking normal, shit dude just remember it damn it to hell (easy killer, its too early for this shit)