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Renal > SM 215: Genetic Cystic Kidney Disease > Flashcards

SM 215: Genetic Cystic Kidney Disease Flashcards

1
Q

What is Autosomal Dominant Polycystic Kidney Disease?

A

ADPKD is the most common monogenic cause of ESRD and due to mutations in the PKD 1 and PKD 2 genes

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2
Q

What genes are responsible for the development of ADPKD?

A

PKD 1 and PKD 2 cause ADPKD

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3
Q

What is the mode of inheritance of ADPKD?

A

Autosomal Dominant Polycystic Kidney Disease is inherited via autosomal dominant

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4
Q

Can ADPKD be acquired from the environment?

A

No, but it can arise from a de novo mutation

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5
Q

Why is there significant phenotypic variability in ADPKD?

A

The severity depends on the type of 100’s of mutations in the PKD 1 and PKD 2 genes and the amount of functional protein that gets made

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6
Q

Why do some people who have the PKD 1/2 mutations that cause ADPKD not experience illness?

A

Second-hit hypothesis

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7
Q

Which gene mutation causes worse ADPKD?

A

PKD 1 mutations are worse than PKD 2

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8
Q

What factors account for the variability in the severity of symptoms in ADPKD?

A

Variable severity in defects of: trafficking, altered post-translational modification, decreased protein production, etc.

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9
Q

What hormone worsens ADPKD?

A

ADH worsens ADPKD by causing cysts to grow faster

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10
Q

How does hypertension occur in ADPKD?

A

Cysts in ADPKD expand and compress cause activation of the RAAS system

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11
Q

What signaling changes cause ADPKD?

A

Decreases in Ca and increases in cAMP

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12
Q

How do Ca, cAMP, and ADH cause cystic growth in ADPKD?

A

Ca + cAMP + ADH = cell proliferation that causes fluid secretion, leading to cyst growth

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13
Q

How many cysts are formed in ADPKD?

A

Innumerable

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14
Q

Does ADPKD cause monoliteral or bilateral kidney enlargement?

A

ADPKD causes bilateral enlargement

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15
Q

Which parts of the kidney are effected by cysts in ADPKD?

A

Cysts are variable in size throughout the entire kidney

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16
Q

What biomarker is a predictor of the rate of decline in GFR in ADPKD?

A

Total Kidney Volume (TKV) is a good biomarker to predict the decline in GFR in ADPKD

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17
Q

How does TKV predict the progression of ADPKD?

A

Faster rises in TKV = greater decline in cGFR = faster losses in Kidney

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18
Q

How is ADPKD diagnosed?

A

ADPKD is diagnosed with cysts on Ultrasound based on a person’s age and with a family history of ADPKD

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19
Q

Does ADPKD cause renal or extrarenal manifestations?

A

ADPKD causes both renal and extrarenal manifestations

20
Q

What are Renal manifestations of ADPKD?

A

Hypertension, flank pain, proteinuria, neprolithiasis

21
Q

How does ADPKD cause Hypertension?

A

Cysts in ADPKD compress healthy glomeruli, decreasing GFR to that glomeruli and triggering the RAAS system

22
Q

How does ADPKD cause Nephrolithiasis?

A

Lower GFR causes urine stasis which promotes stone formation

23
Q

What are Extrarenal manifestations of ADPKD?

A

Hepatic cysts and intracranial aneurysms

24
Q

Do extrarenal manifestations resolve after kidney transplant in ADPKD?

A

Nope - still have a risk for cirrhosis from Hepatic cysts and sudden death from intracranial aneurysms

25
Q

Why does the Liver develop cysts in ADPKD?

A

The PKD 1 and PKD 2 genes are effecting multiple organs

26
Q

What are the current therapies for ADPKD?

A

Blood pressure control to < 130/80
Low sodium intake
Lots of water intake > 3L

27
Q

What is the first line therapy for ADPKD?

A

ACEi/ARB to lower hypertension

28
Q

What is the novel therapy for ADPKD?

A

V2R antagonists like Tolvapatan

29
Q

How do V2R antagonists treat ADPKD?

A

V2R antagonists prevent ADH from growing cysts

30
Q

Why is high water intake recommended in ADPKD?

A

Increasing water intake lowers ADH release, slowing cysts from growing

31
Q

Can a transplant cure ADPKD?

A

Yes and no - fix the kidney, but not the extrarenal effects

32
Q

What is ARPKD?

A

Autosomal Recessive Polycystic Kidney Disease

33
Q

Which is more severe, ARPKD or ADPKD?

A

ARPKD - higher mortality and rapid progression to ESRD

34
Q

When do ARPKD abnormalities present?

A

ARPKD presents in utero and at birth

35
Q

Which gene leads to ARPKD?

A

Mutations in PKHD1 leads to ARPKD

36
Q

What other organ is effected by ARPKD?

A

The Liver, which is seriously dysfunctional

37
Q

Explain Liver dysfunction in ARPKD?

A

Portal Hypertension arises from biliary dysgenesis and hepatic fibrosis, because the PKHD1 gene encodes epithelial cells

38
Q

Which disease predisposes Cholangitis, ARPKD or ADPKD?

A

ARPKD

39
Q

What is Medullary Cystic Kidney Disease?

A

A disease characterized by evidence of tubular and interstitial fibrosis associated with minimal urinary abnormalities

40
Q

Are the abnormalities in Medullary Cystic Kidney Disease severe?

A

Nope, minimal proteinuria and hematuria

41
Q

Describe the cysts in Medullary Cystic Kidney Disease?

A

Cysts are small

42
Q

What gene is associated with MCKD?

A

3 genes: MUC1, UMOD, REN

43
Q

What is MCKD associated with?

A

Hyperuricemia and gout

44
Q

What is MCKD?

A

Medullary Cystic Kidney Disease

45
Q

What are the extrarenal manifestations of MCKD?

A

None

46
Q

How does Medullary Sponge Kidney effect renal function?

A

Renal function is normal, since only small cysts form

47
Q

What is Medullary Sponge Kidney associated with?

A

Kidney stones

Renal (19 decks)

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