ADPKD Flashcards

1
Q

What is Autosomal dominant polycystic kidney disease

A

Inherited disease causing Renal cycsts and extrarenal manifestations incl hepatic cysts, intracranial aneurysms and aortic root dialatiation

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2
Q

When do patietns with ADPKD typically present

A

30-60 - renal cysts start affecting kidney function

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3
Q

Presentitng symptoms ADPKD

A

Haematuria
Loin pain
HPTN
Recurrent UTIs
Kindye stones
Headache

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4
Q

Cause of ADPKD

A

Mutation in PKD1 or PKD2 coding for polycystin 1 or 2 (membran proteins)

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5
Q

What do renal cysts cause

A

Increased kidney volume
Compression of normal renal architecture
Intersitial fibrosis
Tubular atrophy
Progressive renal impairemtn

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6
Q

Which ADPKD type is more severe

A

Type 1 - more severe symptoms. 85% cases. Chromosome 16 rather than 4 in type 2

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7
Q

What can a headahce in ADPKD be a sign of

A

Ruptured berry aneurysm and subsequent SA haemorrhage

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8
Q

Signs of ADPKD on examination

A

Palpable kidneys/abdominal mass
hepatomegaly due to hepatic cysts
Abdominal wall hernias
Cardiac murmur

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9
Q

What cardiac complications can ADPKD cause

A

mitral valve prolapse, mitral regurgitation, aortic regurgitation and dilated aortic root
HPTN -> CHD, stroke, MI

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9
Q

Symptoms of renal filure in ADPKD

A

Develop on 50s
pERIPHERAL OEDEMA
sob
POOR appetitie and weight loss
Polyuria
Pruritis
Nausea

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10
Q

First line investigation ADPKD

A

Renal US scan

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11
Q

Why is creatinine and eGFR not first line in ADPKD

A

Nomral in early stgaes - not sensitive test

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12
Q

What criteria is used for diagnosis of ADPKD

A

Ravines

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13
Q

Ravines criteria for 15-29 years ADPKD

A

Presence of 3 or more renal cysts - uni or bilateral - 94.3% sensitivity for type 1 ADPKD 69.5% typ2 2 ADPKD

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14
Q

Ravines criteria 30-39

A

2 or more rena cysts 96.6% type 1 sensitivtiy + 94 type II

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15
Q

Ravines critiera 40-59 years

A

presence of 2 or more cysts in each kidney, which has a sensitivity of 92.6% for type 1 ADPKD and 88.8% for type 2 ADPKD

16
Q

What is diagnostic criteria for patients with no FH of ADPKD

A

> 10 cysts in each kidney

17
Q

What is the differnece between ADPKD and ARPKD

A

Autosomal recessive PKD presents soon anfter birth and may be no FH

18
Q

What is diffenrece between acquired CKD and ADPKD

A

Acquired a=occurs in patients with pre-existing renal disease and kidneys are usually smaller than ADPKD

19
Q

Tuberous scleroisis vs ADPKD

A

TS - other features present such as facial angiofibromas, ash leaf spots, shagreen patches, subungal fibromas, giant cell astrocytomas and ass with epilepsy

20
Q

Von hippel lindaru syndrome vs ADPKD

A

Both genetic
Renal cell carcinoma strongly ass w VHL but rare in ADPKD

21
Q

Meducllary cystic renal disease vs ADPKD

A

Kidneys smaller in MCR #Reucrrent gout is a common feature

22
Q

Mangement of ADPKD

A

Refer to nephrology
BP control
Renal pain management
Treatment UTIs (7-14 day ABS)
Treat kidney stones

23
Q

Managing ESR in ADPKD

A

Renal transplantation
Dialysis is second line - haemodialysis is preferred

24
Medication in ADPKD
Tolvaptan
25
What does tolvaptan do
- slow cyst progression and renal insufficiency in adults with ADPKD
26
When can use tolvaptan
IF - CKD stage 2 or 3 when start treat Evidence rapidly progression
27
Side effects of tolvaptan
vasopressin V2 receptor antagonist thirst, polyuria and nocturia
28
What can hepatic cysts cause
heartburn, nausea, early satiety and an increased abdominal circumference
29
How prevent SAH in ADPKD
Offer MR angiography 1-5 year intervals for IC aneurysms Can treat surically to avid rupture
30
Pregnancy complications
Incidence of gestational HPTN and preeclampsia higher HPTN - adveerse outcomes
31
Factors indicating poor prognosis in ADPKD
Earlier age at diagnosis Male sex Type 1 ADPKD (mutation in PKD1) Rapidly increasing kidney size Hypertension
32