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1. Renal > Polycystic Kidney Disease > Flashcards

Polycystic Kidney Disease Flashcards

1
Q

What are the two types?

A

Autosomal recessive

Autosomal dominant

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2
Q

Describe the genetics behind autosomal dominantPKD?

A

85% - mutation on chromosome 16 - PKD1

15% - mutation on chromosome 4 - PKD2

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3
Q

Which genetic abnormality is most likely to develop ESKD?

A

PKD1

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4
Q

What is the pathology behind ADPKD?

A

massive cyst enlargement leading to enlarged kidneys
epithelial lined cysts arise from a small population of renal tubules and spread all over the kidneys - cysts vary in size
MAINLY benign adenomas - some are malignant

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5
Q

What are the renal signs of ADPKD?

A

hypertension
reduced urine concentration ability
chronic pain - due to renal capsule stretching
haematuria - cyst rupture, cystitis, stones
cyst infection
renal failure

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6
Q

What are the extra renal signs of ADPKD?

A 
liver cysts - 10 years after renal cysts 
ascites
SOB
pain
intra-cranial aneurysms 
cardiac disease - valve prolapses
diverticular disease
hernias
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7
Q

How is ADPKD diagnosed?

A

ultrasound
renal enlargement
CT/MRI - only if unclear on USS

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8
Q

How is ADPKD managed?

A

control hypertension
hydration
proteinuria reduction
Toluaptan - carbonic anhydrase inhibitor - increases urination and reduces cyst volume and progression

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9
Q

What is the sign of ADPKD in children?

A

a single cyst in the first 10 years of life

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10
Q

What are the genetics behind autosomal recessive PKD?

A

chromosome 6

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11
Q

What are the characteristics of ARPKD?

A

young children
associated with hepatic lesions - fibrotic
bilateral renal involvement
symmetrical cysts
cysts appear from the collecting duct system

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12
Q

What are the signs of ARPKD?

A

kidney always palpable
hypertension
recurrent UTI
slow decline in GFR

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13
Q

What is the prognosis for ARPKD?

A

children who surive first year of life - 80% survival past 15 years
infants who survive the neonatal period - mortality rate of 9-24% in the first year of life

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14
Q

What is Alports syndrome?

A

hereditary nephritis - disorder of the type 4 collagen matrix

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15
Q

How is Alports syndrome inherited?

A

X linked

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16
Q

What is mutated in Alports syndrome? What does this cause?

A

COL4A5 gene

causes deficient collagenous matrix

17
Q

What are the signs of Alports syndrome?

A

haemtauria

proteinuria - shows poor prognosis

18
Q

What are the extra renal signs of Alports syndrome?

A

sensorinerual deafness
ocular defects
leiomyomatosis of oesophagus/genitals

19
Q

How is Alports syndrome diagnosed?

A

renal biopsy - variable thickness GBM

haematuria and hearing loss

20
Q

What is the treatment of Alports syndrome?

A

treat BP and proteinuria

dialysis/transplantation

21
Q

What is Anderson Fabrys Disease?

A

error of the glycosphingolipid metabolism - deficiency of galactosidase A
lysosomal storage disease

22
Q

How is Anderson Fabrys inherited?

A

X linked

23
Q

How does Anderson Fabrys present?

A 
renal failure
cutaneous - angiokeratomas
cardiomyopathy
stroke
pschcosis
24
Q

How is Andersons Fabrys diagnosed?

A

plasma/leukocyte a-GAL activity

renal and skin biopsy

25
Q

How is Andersons Fabrys treated?

A

fabryzyme replacement

26
Q

What is medullary cystic disease?

A

autosomal dominant - morphologically abnormal renal tubules leading to fibrosis
normal/small kidneys

27
Q

Where are the cysts in medullary cystic disease?

A

corticomedullary junction/medulla

they are unsymmetrical

28
Q

How is medullary cystic disease diagnosed?

A

family history

CT scan

29
Q

What is the treatment of medullary cystic disease?

A

renal transplantation

30
Q

What is medullary sponge kidney?

A

dilation of the collecting ducts

cysts have calculi due to urinary stasis

31
Q

How is medullary sponge kidney inherited?

A

sporadic

32
Q

How is medullary sponge kidney diagnosed?

A

excretion urography - shows calculi

1. Renal (28 decks)

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