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Renal > Polycystic Kidney Disease > Flashcards

Polycystic Kidney Disease Flashcards

1
Q

What is polycystic kidney disease?

A

Genetic disease where kidneys filled with hundreds of cysts
Become larger and unable to function

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2
Q

Where are the cysts found ?

A

Cysts in outer layer (cortex) and inner layer (medulla) of kidneys

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3
Q

What are the cysts lined with?

A

Renal tubular epithelium - causes them to become larger

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4
Q

What do the cysts do to do the kidney?

A

Become larger over time > compresses blood vessels of neighbouring healthy nephrons > starve them of oxygen > poor perfusion of kidneys activates RAAS system > retain fluid > hypertension

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5
Q

What do large cysts do?

A

Compress collecting system and cause urinary stasis leading to kidney stones

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6
Q

What are the types of autosomal dominant PKD?

A

Polycystin 1 (PKD1)
Polycystin 2 (PKD2)
Manifests in adulthood

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7
Q

PKD1 gene Mutation

A

More severe > earlier onset

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8
Q

PKD2 gene mutation

A

Less severe > later onset

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9
Q

What happens in autosomal recessive PKD

A

Inherited mutation on both copies of PKHD1 gene

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10
Q

Complications (general) of PDK

A

Renal insufficiency > renal failure
Kidney stones

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11
Q

Complications of autosomal dominant

A
  • Berry aneurysms
  • Mitral valve prolapse
  • Benign hepatic cysts
  • HF
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12
Q

Complications of autosomal recessive

A
  • Congenital hepatic fibrosis > portal hypertension
  • Ascending cholangitis (due to obstructed biliary tree)
  • Cystic enlargement of renal collecting ducts
  • Oligohydramnios and Potter syndrome
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13
Q

Signs and symptoms of PKD

A

Flank pain
High BP
hematuria (blood in urine)
renal insufficiency
renal failure

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14
Q

Diagnostic imaging for PKD

A

Prenatal ultrasound:
Autosomal recessive PKD
Bilaterally large kidneys with cysts

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15
Q

What investigations can we do for PKD

A

FBC
Urinalysis
Urine culture

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16
Q

Medications for PKD

A

Hypertension: ACE inhibitors, ARBs
Cholestasis: Ursodiol ( slows down rate of cholesterol absorption by intestines)

17
Q

What surgery do we give for PKD?

A

Kidney transplant

18
Q

What can be done for portal hypertension in PKD?

A

Portacaval shunt: bypasses liver > connect portal vein to IVC then liver transplant

19
Q

What other interventions can be done?

A

Dialysis

20
Q

Where is autosomal recessive polycystic kidney disease picked up?

A

Antenatal ultrasound scans

21
Q

Which chromosome is PKHD1 found on?
(polycystic kidney and hepatic disease 1)

A

Chromosome 6

22
Q

What does PKHD1 gene code for?

A

fibrocystin/polyductin protein complex (FPC)

23
Q

What is fibrocystin/polyductin protein complex (FPC) responsible for?

A

creation of tubules and the maintenance of healthy epithelial tissue in the kidneys, liver and pancreas.

24
Q

What is Oligohydramnios?

A

lack of amniotic fluid caused by reduced urine production by the fetus.

25
Q

What is Potter syndrome?

A

lack of amniotic fluid leads to Potter syndrome
characterised by dysmorphic features such as underdeveloped ear cartilage, low set ears, a flat nasal bridge and abnormalities of the skeleton.

26
Q

What does oligohydramnios lead to?

A

underdeveloped fetal lungs (pulmonary hypoplasia) > resp failure shortly after birth

27
Q

What problems do patients with PKD have throughout life?

A

Liver failure due to liver fibrosis
Portal hypertension leading to oesophageal varices
Progressive renal failure
Hypertension due to renal failure
Chronic lung disease

28
Q

Prognosis of PKD autosomal

A

Poor
1/3 die in neonatal period
1/3 die in adulthood

29
Q

Signs of PKD

A
  • Bilateral flank masses: due to large polycystic kidneys
  • Hypertension**: seen in most patients by 4th decade of life
30
Q

Symptoms of PKD

A

-Abdo, flank or back pain due to large cyst
- Hematuria
- Dysuria and fever
- Renal Colic

31
Q

General treatment for PKD

A
  • Blood pressure control: ACE inhibitors
  • Regular follow-up including renal function assessment and ultrasound to look for progression
  • Maintain adequate hydration (3+ litres/day) unless significant CKD and dietary sodium restriction
  • Avoid contact sports due to the risk of cyst rupture
  • Avoid anti-inflammatory medications and anticoagulants

Renal (15 decks)

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