GU1 - Nephrology > ADPKD > Flashcards

ADPKD Flashcards

(40 cards)

Study These 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
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

PKD

- describe

A
  • group of monogenic disorders

- characterized by propensity to develop numerous renal cysts

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

what is a cyst

A

fluid filled cavity with no physiological use

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Two main types of PKD

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

*also syndromic forms and autosomal recessive

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

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

A

de novo mutation

5-10%

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Does cyst location matter?

A

YES

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

What electrolyte is found in the cysts?

A

Chloride

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Where are cysts found?

A
  • only 1 to 3% of nephrons develop cysts

- common collecting ducts

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

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

A

4-6 times normal volume

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Extrarenal manifestations of PKD

A
  • intracranial aneurysms
  • hepatic cysts (usually worse in women)
  • pancreatic cysts
  • hernia
  • diverticulosis
  • male infertility
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

When to screen for intracranial aneurysm

A
  • fam hx
  • uncontrolled HTN with HA
  • high risk profession (bus driver, pilot, firefighter)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

DABDA cycle: emotional burden

A
  • denial
  • arguing
  • bargaining
  • depression
  • acceptance
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

What must also be assessed after dx of PKC

Study These Flashcards
A

cardiovascular risk

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

PKD screening and dx

- family history

Study These Flashcards
A
  • confirm autosomal dominant pattern of inheritance

- de novo cases occur too (neg family hx)

19
Q

PKD screening and dx

- PE

Study These Flashcards
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?

Study These Flashcards
A

MRI - can measure volume

21
Q

what is an aquaretic

Study These Flashcards
A

lose water not electrolytes

22
Q

PKD screening and dx

- eGFR

Study These Flashcards
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

Study These Flashcards
A

125I-iothalamate but never used…

24
Q

PKD screening and dx

- what precedes change in renal function?

Study These Flashcards
A

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

25
PKD screening and dx | simple cyst
- cyst wall is fine - cyst liquid is clear *ok to have a few as you age
26
PKD screening and dx | - diagnosic tests
- US:
27
US to dx PKD
- confirm dx in setting of positive fam hx - low cost and safe = commonly used - hard to characterize small cysts
28
Pei criteria for US dx of PKD
- 15-39 yo >= 3 unilateral or bilateral cysts - 40 - 59 yo >=2 bilateral cysts (4 total) - >=60 >= 4 bilateral cysts (8 total)
29
PKD screening and dx | - when use CT and MRI
- 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
Limitations of fam hx and imaging to dx PKD
- 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
PKD screening and dx | - molecular diagnosis
- 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
benefits to early dx of PKD
- find living donor - informed family planning - early detection/tx of complications - early preventative therapies (ACEI/ARB) - lifestyle changes to preserve kidney fn
33
Diagnostic algorithm for PKD
- 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
predictors of rapid disease progression
- younger presentation (<50 yo) - GFR 25-30, early decrease - early onset of HTN - gross hematuria - high total kidney volume - PKD1 mutations
35
Three things to help reduce impact of PKD
- control HTN - ACEI - drink water
36
ProPKD to assess prognosis in PKD
score <3: progression to ESRD after 60 yo score 3-6: will come earlier than 60 yo score >6: rapid progression, early ESRD
37
PEARLS: | - what are 3 key factors in PKD dx
- fam hx - age - number and type of cysts
38
PEARLS: | - what is most common diagnostic tool for dx
- US | - may confirm dx in setting of positive fam hx
39
PEARLS: | - what two diagnostic tools other than US are used
- MRI and CT - more sensitive than US - can be used to determine total kidney volume which is informative for prognosis
40
PEARLS: | - what dx tool can be used when have equivocal imaging data and negative fam hx?
molecular (genetic) testing
GU1 - Nephrology
flashcards
Decks in class (16)
# Cards
Brainscape helps you reach your goals faster, through stronger study habits.
© 2026 Bold Learning Solutions. Terms and Conditions