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GU1 - Nephrology > ADPKD > Flashcards

ADPKD Flashcards

1
Q

PKD

  • how common
  • why important
A
  • 1/1000 live births
  • most end up on dialysis or kidney transplant
  • 5% end up with ESRD
  • most common life-threatening inherited renal disease
  • fourth leading cause of ESRD after DM, HTN, glomerulonephritis
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2
Q

PKD

- describe

A
  • group of monogenic disorders

- characterized by propensity to develop numerous renal cysts

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3
Q

what is a cyst

A

fluid filled cavity with no physiological use

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4
Q

Two main types of PKD

A
  • PKD1 (85%) more severe
  • PKD2 (15%)

*also syndromic forms and autosomal recessive

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5
Q

What are the proteins coded by PKD1 and PKD2

A
  • Polycystin-1 (PC1)
  • Polycystin-2 (PC2)
    membrane proteins, mutation allows for epithelial relaxation which allows formation of cysts
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6
Q

How else to get PKD other than mutations in PKD1 and 2

A

de novo mutation

5-10%

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7
Q

What two essential processes are required for cyst growth?

A
  • cell proliferation: size of tubules and cysts increase
  • fluid secretion: contributes to cyst enlargement
    both = cyst growth
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8
Q

Does cyst location matter?

A

YES

- inner medullary cyst can potentially diminish urine flow from >16,000 upstream tubules

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9
Q

What electrolyte is found in the cysts?

A

Chloride

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10
Q

Where are cysts found?

A
  • only 1 to 3% of nephrons develop cysts

- common collecting ducts

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11
Q

By how much does kidney volume have to increase to affect kidney function?

A

4-6 times normal volume

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12
Q

Progression of PKD

A
  • once kidney 4-6 normal volume, renal fn declines
  • irreversible damage occurs once GFR decreases
  • disease progression varies between pts
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13
Q

Renal manifestations of PKD

A
  • HTN
  • renal cysts
  • hematuria
  • nocturia
  • palpable kidneys
  • kidney stones
  • abd/flank pain*
  • renal artery/vein occlusions
  • recurrent UTIs
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14
Q

Extrarenal manifestations of PKD

A
  • intracranial aneurysms
  • hepatic cysts (usually worse in women)
  • pancreatic cysts
  • hernia
  • diverticulosis
  • male infertility
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15
Q

When to screen for intracranial aneurysm

A
  • fam hx
  • uncontrolled HTN with HA
  • high risk profession (bus driver, pilot, firefighter)
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16
Q

DABDA cycle: emotional burden

A
  • denial
  • arguing
  • bargaining
  • depression
  • acceptance
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17
Q

What must also be assessed after dx of PKC

A

cardiovascular risk

  • albumin excretion & LVMI (ACEI)
  • LDL cholesterol (statin)
  • smoking (stop)
18
Q

PKD screening and dx

- family history

A
  • confirm autosomal dominant pattern of inheritance

- de novo cases occur too (neg family hx)

19
Q

PKD screening and dx

- PE

A
  • highly variable
  • sudden onset renal pain or hematuria
  • HTN
  • nephromegaly or renal cysts on PE or radiologic exam
  • microalbuminuria
  • LVH
  • pain most common sx
  • anorexia, nausea, weight loss, pyelonephritis
20
Q

What dx tool is important for determining how fast cysts are enlarging?

A

MRI - can measure volume

21
Q

what is an aquaretic

A

lose water not electrolytes

22
Q

PKD screening and dx

- eGFR

A
  • best index of kidney function

- 24 hour urine is gold standard but still not 100% accurate

23
Q

what is the only 100% accurate way to calculate GFR

A

125I-iothalamate but never used…

24
Q

PKD screening and dx

- what precedes change in renal function?

A

changes in kidney volume
- as kidney and cyst volume increase, renal function decreases
(MRI can determine volume)

25
Q

PKD screening and dx

simple cyst

A
  • cyst wall is fine
  • cyst liquid is clear

*ok to have a few as you age

26
Q

PKD screening and dx

- diagnosic tests

A
  • US:
27
Q

US to dx PKD

A
  • confirm dx in setting of positive fam hx
  • low cost and safe = commonly used
  • hard to characterize small cysts
28
Q

Pei criteria for US dx of PKD

A
  • 15-39 yo >= 3 unilateral or bilateral cysts
  • 40 - 59 yo >=2 bilateral cysts (4 total)
  • > =60 >= 4 bilateral cysts (8 total)
29
Q

PKD screening and dx

- when use CT and MRI

A
  • US results equivocal or indeterminate
  • can detect smaller cysts than US
  • predictive utility not validated
  • radiation exposure and dye
  • MRI is better for soft tissue
30
Q

Limitations of fam hx and imaging to dx PKD

A
  • may be ambiguous in young pts: renal US may be inconclusive
  • dx may be challenging if fam hx is unknown
  • molecular dx methods should be considered
31
Q

PKD screening and dx

- molecular diagnosis

A
  • DNA linkage analysis: indirect analysis on markers near PKD1 and PKD2 genes
  • Direct mutation screening: sequencing of PKD1 and PKD2 exons and flanking introns. $$$$
32
Q

benefits to early dx of PKD

A
  • find living donor
  • informed family planning
  • early detection/tx of complications
  • early preventative therapies (ACEI/ARB)
  • lifestyle changes to preserve kidney fn
33
Q

Diagnostic algorithm for PKD

A
  • have fun, in general:
  • if in doubt of a cyst and pt has fam hx, do an MRI
  • negative family hx and pt has cysts, do genetic testing
34
Q

predictors of rapid disease progression

A
  • younger presentation (<50 yo)
  • GFR 25-30, early decrease
  • early onset of HTN
  • gross hematuria
  • high total kidney volume
  • PKD1 mutations
35
Q

Three things to help reduce impact of PKD

A
  • control HTN
  • ACEI
  • drink water
36
Q

ProPKD to assess prognosis in PKD

A

score <3: progression to ESRD after 60 yo
score 3-6: will come earlier than 60 yo
score >6: rapid progression, early ESRD

37
Q

PEARLS:

- what are 3 key factors in PKD dx

A
  • fam hx
  • age
  • number and type of cysts
38
Q

PEARLS:

- what is most common diagnostic tool for dx

A
  • US

- may confirm dx in setting of positive fam hx

39
Q

PEARLS:

- what two diagnostic tools other than US are used

A
  • MRI and CT
  • more sensitive than US
  • can be used to determine total kidney volume which is informative for prognosis
40
Q

PEARLS:

- what dx tool can be used when have equivocal imaging data and negative fam hx?

A

molecular (genetic) testing

GU1 - Nephrology (16 decks)

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