tubular diseases Flashcards
Fanconi syndrome is a defect of the _____ and occurs in the ______
NaKATPase transporter, occurs in the Proximal Convoluted Tubule
Fanconi will result in increased___, ____, ____, ____ in the urine
Amino acids, glucose, HCO3-, PO43-
Genetic Forms of Fanconi syndrome
*Cystinosis* Wilson's Lowe Tyrosinemia Galactosemia Dent's Glycogen storage disease
Most common cause of Fanconi in children
cystinosis: abnormal lysosomal accumulation of cystine afecting kidney, eyes, muscle
mutations casuing Bartters
ROMK1
NKCC2
Barttin
auto recessive
Bartter’s importance of ROMK1
ROMK1 causes K to come back into the lumen to allow the NKCC to keep pumping.
Gitelman’s affects the _______ tubules
Distal
mutations that cause Gitelman’s?
Thiazide Sensitive Co-transporter (TSC) NaCl
TRPM6
in distal collecting tube
Bartter syndrome lab findings?
hypokalemia
metabolic alkalosis
hypercalciuria
Gitelman lab findings
hyponatremia
hypokalemia
hypomagnesemia
hypocalciuria
metabolic acidosis
Inhibitors of NaCl cotransporter in the distal convoluted tube?
thiazide inhibitors
Liddle’s syndrome affects the?
collecting tubule
Liddle’s is from mutations in the
ENacs don’t get degraded leaving many constantly active
Nephrogenic diabetes insipidus mutations
V2-R defects
AQP2muts
Difference between nephrogenic diabetes insipidus and non-nephrogenic (neurogenic) diabetes insipidus
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
Where is Na/H exchanger and where is HATPase?
Na/H is in the Proximal tubule
HATPase is in the distal and collecting tubules
Carbonic anhydrase inhibitors and Fanconi can cause _______ tubular acidosis
proximal tubular acidosis
Where is urine acidified?
Distal convoluted tubule
what is the difference in urine pH between distal and proximal tubular acidosis?
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.
