tubular diseases

Question 1

Fanconi syndrome is a defect of the _____ and occurs in the ______

Answer 1

NaKATPase transporter, occurs in the Proximal Convoluted Tubule

Question 2

Fanconi will result in increased___, ____, ____, ____ in the urine

Answer 2

Amino acids, glucose, HCO3-, PO43-

Question 3

Genetic Forms of Fanconi syndrome

Answer 3

*Cystinosis*
Wilson's
Lowe
Tyrosinemia
Galactosemia
Dent's
Glycogen storage disease

Question 4

Most common cause of Fanconi in children

Answer 4

cystinosis: abnormal lysosomal accumulation of cystine afecting kidney, eyes, muscle

Question 5

mutations casuing Bartters

Answer 5

ROMK1
NKCC2
Barttin

auto recessive

Question 6

Bartter’s importance of ROMK1

Answer 6

ROMK1 causes K to come back into the lumen to allow the NKCC to keep pumping.

Question 7

Gitelman’s affects the _______ tubules

Answer 7

Distal

Question 8

mutations that cause Gitelman’s?

Answer 8

Thiazide Sensitive Co-transporter (TSC) NaCl

TRPM6

in distal collecting tube

Question 9

Bartter syndrome lab findings?

Answer 9

hypokalemia

metabolic alkalosis

hypercalciuria

Question 10

Gitelman lab findings

Answer 10

hyponatremia

hypokalemia

hypomagnesemia

hypocalciuria

metabolic acidosis

Question 11

Inhibitors of NaCl cotransporter in the distal convoluted tube?

Answer 11

thiazide inhibitors

Question 12

Liddle’s syndrome affects the?

Answer 12

collecting tubule

Question 13

Liddle’s is from mutations in the

Answer 13

ENacs don’t get degraded leaving many constantly active

Question 14

Nephrogenic diabetes insipidus mutations

Answer 14

V2-R defects

AQP2muts

Question 15

Difference between nephrogenic diabetes insipidus and non-nephrogenic (neurogenic) diabetes insipidus

Answer 15

nephrogenic is a defect in the nephron whereas Neurogenic Diabetes Insipidus is from a failure of the ypothalmus to produce ADH so the patient would be responsive to ADH in the neuro DI and not responsive in nephro DI

Question 16

Where is Na/H exchanger and where is HATPase?

Answer 16

Na/H is in the Proximal tubule

HATPase is in the distal and collecting tubules

Question 17

Carbonic anhydrase inhibitors and Fanconi can cause _______ tubular acidosis

Answer 17

proximal tubular acidosis

Question 18

Where is urine acidified?

Answer 18

Distal convoluted tubule

Question 19

what is the difference in urine pH between distal and proximal tubular acidosis?

Answer 19

urine pH will be greater than 5.5 in Distal Renal Tubular Acidosis because the urine doesn’t get acidified whereas Proximal the urine will be less than 5.5 because HCO3 doesn’t form H2CO3 and then H20 and CO2 and diffuse thereby allowing more HCO3 to be excreted.