Renal Phys Correlations

Question 1

treatment LIddle syndrome

Answer 1

decrease Na channel activity > Amiloride, Triamterene

Question 1

reabsorbs na, secretes K

regulated by aldosterone

Answer 1

principal cells of late distal tubule and cortical collecting duct

Question 1

mutations of bartter syndrome

Answer 1

ascending loop

BSND, CLCMKA CLCNKB KCHJ1 SLC12A1

Question 2

treatment AME

Answer 2

reduce endogenous cortisol > Amiloride, Triamterene

block mineral corticoid receptor > Spironolactone/Eplerenone

K repletion

Dexamethasone for ACTH supression

Question 2

presentation bartter syndrome and gitelman syndromes

Answer 2

Bartter: early childhood

growth and mental retardation

Polyura and Polydyipsia

Hypercalciuria

**Gitelman Syndrome: **Teens/Adult

Cramping of arms and legs, fatigue

Hypomagnesmia

polyuria and nocturia

Question 3

clinical picture liddle syndrome (pseudoaldosteronism)

Answer 3

young onset severe HTN

hypokalemia

metabolic acidosis

low plasma renin activity

Low plasma aldosterone AND urinary aldosterone

Question 4

pathogenesis liddle syndrome

Answer 4

mutation in renal epithelium sodium channel (beta or gama subunit)

leading to constituative expression increased abs of Na leading to HTN

Question 6

Clinical picture AME

Answer 6

HTN

hypokalemia

Metabolic alalosis

low plasmin Renin and aldosterone

Question 6

clinical picture and inheritance, Bartter syndrome and Gitelman syndrome

Answer 6

hypocalemia

hyperreninemia

hyperaldosteronism

metabolic alkalosis

A Recessive

Question 8

presentation Apparent Mineralocorticoid Excess

Answer 8

Low birth weight, FTT

HTN in early childhood

extensive organ damage, renal failure

Question 9

mutations of gielman syndrome

Answer 9

thiasise sensitive Na-Cl transporter

SLC12A3, CLCNKB

Question 10

bartter syndrome mimics effects of (drugs)

gitelman syndrome mimics (drugs)

Answer 10

loop diuretic

thiazide diuretic

Question 11

reabsorbs 25% of filtered Na/K/2Cl transport

paracellular reab of Na K Mg, Ca

Impermeable to water

Answer 11

Thick ascending loop

Question 12

paracellular reab of Na K Mg, Ca

Impermeable to water, dilutes tubular fluid

Answer 12

thick ascending loop

Question 13

diagnosis of AME

Answer 13

Urine cortisol to cortisone ratio: urinary free cortisone is very low

11B-HSB2 gene (autosomal recessive(

Question 15

diagnosis liddle syndrome

Answer 15

SCNN1 and SCNNIB genes

Question 16

reabsorption of Na and K blocked by K sparing diuretics

Answer 16

principal cells of late distale tubule and cortical collecting duct