ICL 1.1: Tubular Disorders Flashcards

1
Q

which tubular disorders are associated with the PCT?

A
  1. pRTA
  2. Fanconi
  3. Dent/Lowe
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2
Q

which tubular disorders are associated with the loop of henle?

A
  1. Bartter

2. familial hypomagnesemia with hypercalcuiuria

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3
Q

which tubular disorders are associated with the DCT?

A
  1. Gitelman

2. Gordon

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4
Q

which tubular disorders are associated with the collecting duct?

A
  1. Liddle
  2. PHA1
  3. NDI
  4. hereditary SIADH
  5. dRTA
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5
Q

what is fractional excretion?

A

(clearance of X/GFR)*100

clearance = UV/P

GFR is approximately equal to creatine clearance

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6
Q

what are the types of renal tubular acidosis?

A

type I = distal RTA

type II = proximal RTA

type IV = collecting duct

type III is combination of proximal and distal RTA and isn’t common

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7
Q

what is the job of the PCT when it comes to HCO3?

A

reabsorption of HCO3 via both active and paracellular transport

HCO3 goes into the interstitum via Na/HCO3 NBC1 cotransporter on the basolateral surface of PCT

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8
Q

what are the causes of primary isolated proximal RTA?

A
  1. hereditary (AD and AR forms)

2. sporadic

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9
Q

what are the causes of secondary isolated proximal RTA?

A
  1. Fanconi syndrome (multiple myeloma)
  2. drugs and toxins
  3. other conditions = Alport syndrome, amyloidosis, vitamin D deficiency, hyperparathyroidism, chronic hypocapnia, etc.
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10
Q

what is primary distal RTA?

A
  1. persistent
  2. classic form is sporadic or inherited as AD or AR
  3. has neurosensorial deafness (AR)
  4. bicarbonate wasting
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11
Q

what is the formula for urine AG?

A

UAG = Na + K - Cl

urinate anion gap is usually negative and is the major measure of NH4+

distal tubular renal acidosis if the UGA isn’t negative

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12
Q

what is Fanconi syndrome?

A
  1. proximal RTA invovlement
  2. glycosuria
  3. AA in urine
  4. phosphaturia
  5. low molecular weight proteinuria
  6. hypercalcuria
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13
Q

which conditions are associated with inherited Fanconi syndrome?

A
  1. cystinosis (AR)
  2. idiopathic
  3. Wilson’s disease
  4. hereditary fructose intolerance
  5. mitochondrial disease
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14
Q

what is dent disease?

A

Recessive X-linked defect in intracellular Cl transporter or in intracellular phosphatase enzyme

Nephrocalcinosis, nephrolisthiasis

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15
Q

what are some of the causes of acquired Fanconi syndrome?

A
  1. malignancy
  2. MM
  3. renal transplant
  4. nephrotic syndrome
  5. heavy metals
  6. medications = adenovirus, tenor, ahminoglycosides, cisplatin, valproate, tetracyclines
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16
Q

what is Bartter syndrome?

A

failure of Na Cl reabsorption in TAL due to defect in Na/K/2Cl cotransporter on luminal surface

loss of K+ via ROMK transporter

failure to concentrate the urine

hypotension and volume depletion may be present which leads to RAAS being activated

Bartter syndrome is similar to loop diuretic excess

17
Q

what is Gitelman syndrome?

A

prevalence 1/40,000 and it’s diagnosed adolescence early adulthood

milder renal salt losses than Barter but Ca+2 loss won’t be that bad so it’s kind of like a thiazide overdose

you’ll have hypokalemia, metabolic alkalosis, hypomagnesemia

18
Q

what is Gordon syndrome??

A

overactivity of NCC transporter in the DCT so you have a lot of Na and Cl reabsorption

so you’ll have HTN, metabolic acidosis, hypercalcuria, hyperkalemia

it’s sensitive to treatment with thiazide diuretics

19
Q

what is Liddle syndrome?

A

mutation in ENaC that prevents its removal so it’s always on and Na is always being reabsorbed

people get metabolic alkalosis, hypokalemia and HTN

response to amiloride which blocks ENaC channels but NOT spironolactone

20
Q

what is diabetes insipidus

A

central or nephrotgenic problems with ADH

nephrogenic DI has elevated ADH but the body isn’t responding

patients will have polyuria, polydipsia, nocturne, and urinary concentration is low