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BPT Renal > Polycystic Kidney Disease > Flashcards

Polycystic Kidney Disease Flashcards

1
Q

What is the prevalence of PCKD?

A

1:1000

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2
Q

What is the inheritance pattern of PCKD?

A

autosomal dominant

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3
Q

What is the most common gene responsible for PCKD?

A

PKD1 (polycystin-1) - 78%

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4
Q

What percentage of PCKD patients don’t have a family history?

A

10-15%

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5
Q

Which type of mutation results in a milder phenotype?

A

non truncating

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6
Q

Which is more severe PKD1 or PKD2?

A

PKD1

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7
Q

By what age to 50% of PCKD reach ESRF?

A

60

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8
Q

What are the risk factors for more progressive renal disease in PCKD?

A

PKD1, truncating mutation, male, early onset sx, family hx of early ESKD, kidney size, hypertension, proteinuria

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9
Q

Is there an increased risk of RCC in PCKD?

A

no

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10
Q

What are the renal manifestations of PCKD?

A

hypertension, haematuria, proteinuria (less common), renal failure, flank pain, chronic pain, UTI, calculi

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11
Q

What are the extra renal manifestations of PCKD?

A

cerebral aneurysms, hepatic cysts, pancreatic cysts, seminal vesicle cysts, cardiac valve disease, aortic dissection/aneurysms, cardiomyopathy, LVH, AF, coronary aneurysms, pericardial effusions, colonic/duodenal diverticulae, abdominal wall and inguinal hernia

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12
Q

What risk factor modification is important for cerebral aneurysms in PCKD?

A

BP, lipid control, smoking cessation

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13
Q

Which patients should be screened for cerebral aneurysms?

A

phx ruptured aneurysm, fhx, neurological sx, high risk job (e.g. pilot), prior to major surgery

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14
Q

Which artery is usually involved in cerebral aneurysms?

A

MCA

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15
Q

What percentage of patients with PCKD have cerebral aneurysms?

A

5% in young adults, up to 20% in patients > 60

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16
Q

What percentage of patients with PCKD have severe polycystic liver disease?

A

15%

17
Q

What symptoms to patients get from polycystic liver disease?

A

early satiety, reflux, abdominal pain, bloating, dyspnoea, back pain, ascites, oedema

18
Q

Which type of cardiac valve disease is more common?

A

mitral valve prolapse and aortic regurgitation

19
Q

What is required for diagnosis of PCKD?

A

FHx + > 3 cysts if age 15-39 or > 2 cysts in each kidney age 40-49

OR

> 10 cysts in each kidney

20
Q

When should you consider a differential diagnosis?

A

If eGFR doesn’t match with degree of renal cyst burden

21
Q

What are some differential diagnoses for PCKD?

A

benign cysts, cysts secondary to dialysis, cysts secondary to lithium, ADTKD, autosomal recessive PKD, tuberous sclerosis

22
Q

Which gene is affected in autosomal recessive PKD?

A

PKHD1

23
Q

Which is more severe - autosomal recessive or autosomal dominant PKD?

A

autosomal recessive

24
Q

Why does tuberous sclerosis sometimes occur concurrently with PCKD?

A

because the genes are proximal

25
Q

What are the key features for a diagnosis of ADPKD?

A

diffuse cysts, enlarged kidneys and positive family hx

26
Q

What are the benefits of BP control in PCKD?

A

reduces the increase in TKV, reduces eGFR decline, improves CV mortality

27
Q

What are the conservative management strategies for PCKD?

A

ACE/ARB, reduce sodium intake, increase fluid intake, lipid control, ?caloric restriction

28
Q

What is the mechanism of action of tolvaptan?

A

vasopression V2 receptor antagonist

29
Q

What criteria are required to prescribe tolvaptan on the PBS?

A

eGFR < 90mL/min and eGFR decline >5mL/min/year or > 2.5mL/min/year for 5 years or more

30
Q

What is the dose for tolvaptan?

A

start: 45mg mane then 15mg eight hours later

increase every 1-4 weeks up to max 90mg mane, 30mg afternoon

31
Q

What is the aim of using tolvaptan?

A

to decrease urine osmolality to < 280 (hypotonic)

32
Q

What are the side effects in tolvaptan?

A

small decline in eGFR (6-8%)
polydipsia, polyuria, nocturia
deranged LFTs (measure LFTs monthly for 18 months)
hypernatraemia (need to increase hydration or reduce dose)

33
Q

What are the contraindications for tolvaptan?

A

baseline hypernatraemia, inability to sense or respond to thirst, frailty, hypovolaemic, concurrent diuretic usage

34
Q

What drugs to tolvaptan interact with?

A

CYP3A4 inhibitors

35
Q

What is the most common cause of death in PCKD?

A

cardiac cause

BPT Renal (9 decks)

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