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Year 2(B7) - Renal > Week 4 - H - Inheritied kidney disorders - P.K.D / Potter's, Alport's, Anderson-Fabry, Medullary cystic > Flashcards

Week 4 - H - Inheritied kidney disorders - P.K.D / Potter's, Alport's, Anderson-Fabry, Medullary cystic Flashcards

1
Q

What are the two main types of polycystic kidney disease and which is more common?

A

Autosmoal dominant and autosomal recessive polycystic kidney disease

Autosomal dominant is more common

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2
Q

Where do the cysts in PKD occur?

A

The cysts occur in the cortex and medulla of the kidneys therefor impeding function

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3
Q

ADPKD is an important cause of ESRD

What stage of CKD is ESRD?

A

This is stage 5 - GFR <15 and patinet is on dialysis and prevelance is 0.1%

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4
Q

What are the mutations in ADPKD? State which is more common?

A

85% is a mutation in PKD gene 1 on chromosome 16

15% is a mutation in PKD gene 2 on chromosome 4

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5
Q

Why is genetic counselling important in a patinet with autosomal dominant polycystic kidney disease?

A

This is because the disease is autosomal dominant and therefore 50% of offsrping is likely to have the disease

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6
Q

ADPKD presents in young adults usually What are the renal symptoms and signs?

A

Abdominal pain haematuria - rupture cyst

Big and palpable kidneys on balloting

Bilateral also

Progressive renal failure

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7
Q

What happens to the urine production in ADPKD?

A

There is a reduced urine concentrating ability due to the cysts causing the kidney to be damaged and therfore the patient can experience enuresis

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8
Q

What are extra renal signs of ADPKD? (ie what other organs are affected by the cysts and what is a really important other sign)

A

Hepatic and pacnreatic cysts usually on Ultrasound - usually non functioning

Ovarian cysts can also occur

Intra-cranial anuerysm - sub arachnoid haemorrhage - due to berry aneursym in circle of Willis rupturing

(big bilateral and berry aneurysms)

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9
Q

What is the heart defects seen in ADPKD?

A

Tend to see mytral/aortic valve prolapse

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10
Q

What is used for diagnosis of ADPKD?

A

Ultrasound examination to detect renal cysts

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11
Q

If unsure of cysts on ultrasound, what is carried out?

A

Carry out CT scan to detect for cysts

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12
Q

Autosomal dominant polycystic kidney disease in children can be difficult to differentiate from autosomal recessive PKD

If the ultrasound detects ______ when examining, how will this point more to ARPKD?,

A

On USS, the presence of suspicion of congenital hepatic fibrosis is associated with ARPKD

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13
Q

In ADPKD, the urea and electrolytes need to be monitored What is the best option to control the blood pressure? What is the new treatment to reduce cyst volume and progression?

A

For the hypertension - prescribe ACEinhbitors

To reduce the cyst volume and progression - Tolvaptan

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14
Q

What type of drug is tolvaptan?

A

it is a vasopressin antagonist

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15
Q

If the patinet is in end stage renal failure, what is the treatment option?

A

Treat the patient with dialysis or transplant therapy

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16
Q

What is the rarer form of polycytic kidney disease and what is the mutation?

A

This is autosomal recessive polycystic kidney disease - presents in children

Mutation in ARPKD is on the PKHD1 gene (polycystic kidney and hepatic disease 1) on chromosome 6

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17
Q

What is the sydrome that can occur in newborns affected by polycystic kidney disease also seen in newborns with bilateral renal agenesis?

A

Potter’s syndrome - due to oligohydroamnios (deficiency of amniotic fluid)

18
Q

What are the features of potter’s syndrome?

A

Lung hypoplasia

Flat face and low set ears

Developmental defects of the limbs - due to oligohydroaminos

19
Q

5In ARPKD, there is bilateral renal involement with elongated cycts often causing medullary collecting duct dilatation What is ARPKD also associated with? (another congenital thing)

A

Congenital hepatic fibrosis which can lead to hypertension and hepatic cysts

20
Q

What is the clinical presentation of ARPKD?

A

Child presents with bilateral renal enlagrment

Is hypertensive, recurrent UTIs and kidneys are palpable

21
Q

In children with ARPKD, the investigation is done with a US/CT What percentage of children are expected to even reach dialysis?

A

Only 1/3rd of children reach dialsysis

22
Q

a genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. What is this condition known as? 1-2% of patients end up with ESRD

A

This is Alport’s syndrome

23
Q

What is the muation of Alport’s syndrome and how is it passed on?

A

It is an X-linked inheritance where there is defect in the type IV collagen maturation

24
Q

What are the clincial defects of Alport’s syndrome?

A

Hameaturia

Sensorineural deafness

Ocular defects

Proteinuria - worse prognosis if this is here

25
Q

What is the ocular defect in Alport’s syndrome known as?

A

Anterior lenticonus - they patient has a misshapen lens where the lens protrudes into the anterior chamber of the eye

26
Q

When a patinet presents with haematuria and sensorineural deafness, Alport’s is suspected What is the test carried out?

A

Carry out a renal biopsy which shows variable thickness glomerular basement membrane which is a charcteristic feature

27
Q

What is given to control the preoteinuria and blood pressure in Alport’s?

A

Give ACE inhibtor

In patients progressing to ESRD - dialysis and transplantation are considered

28
Q

X linked lysosomal storage disease with Inborn error of glycosphingolipid metabolism What is the deificency in and hwat is the disease?

A

Anderosn-Fabry’s disease - deficiency of a-galactosidaseA

29
Q

What are the organs affected by anderson-Fabry’s disase?

A

The kidneys, livers, lungs and erythrocytes

30
Q

Run over again, what is Anderson’fabry’s disease?

A

It is an X lnked inheritance a-galactosidase

A deficiecny causing in error in lysosomal storage with an inborn error of glycosphingolipid metabolism

31
Q

How is Anderson-Fabry’s disease diagnosed?

A

It is diagnosed by measuring a-GAL A or Renal or skin biopsy

32
Q

What are the clinical features of Anderson-Fabry’s disease?

A

Renal failure

Cutaenous lesions

Cardiomyopathy / valvular disease

Stroke

33
Q

What are the cutaneous lesions seen in Aderson-Fabry’s disease known as?

A

These cutaneous lesions are known as angiokeratomas

34
Q

What do angiokertomas look like?

A

They look like small red/blue papules on the skin

35
Q

What is the treatmnet of Anderson-Fabry’s disease?

A

Treat with enzyme replacement therapy - fabryzyme (man-made alpha-glactosidase A)

36
Q

One more time what is the defect in Anderson-Fary’s disease? What is wrong in Alport’s disease?

A

Anderson Fabry - Xlinked lysosomal storage disease with an inborn error of glycosphingolipid metabolsim (deficiency of alpha-galactosidase A)

Alport’s - defect in type IV collagen maturation - leads to haematuria, sensorinerual deafness, ocular defects (anterior leticnus) and proteinuria if severe

37
Q

Inherited (autosomal dominant) defect leading to cysts in the medullary collecting ducts causing enal fibrosis What is this disorder?

A

This is medullary cystic disease

38
Q

What does the parenchymal fibrosis due to the cysts result in? (size and function of the kidneys)

A

This results in shrunken kidneys and renal failure as the kidneys lose their ability to concentrate the urine

39
Q

What are symptoms of medullary cystic kidney disease? What does PKD have that this does not as symptoms?

A

Medullary - polyuria, polydispia, enuresis

PKD will also have a heavy felling in the back and abdominal pain with haematuria

40
Q

Medullary cystic disease is diagnosed by CT scan, what is the age of presentation and what is the treatment?

A

Roughly 28 years and renal transplant is treatment of choice

41
Q

Patinet presents with sensorineural loss, haematuria and proteinuria What is the other clinical feature? What is the disease? What is the treatment? What is the defect?

A

Patinet has Alport’s syndrome

Also associated with anterior leticonus (bilateral here)

Defect in type IV collagen maturation - Xlinked Treatment is using ACEinhibtors

Year 2(B7) - Renal (51 decks)

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