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Renal Week 2 2017/18 > 9: Inherited renal disorders > Flashcards

9: Inherited renal disorders Flashcards

1
Q

What is the most common mode of inheritance of polycystic kidney disease?

A

Autosomal dominant

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2
Q

What mutations cause autosomal dominant polycystic disease?

Which chromosome is involved?

A

PKD1 on chromosome 16

PKD2 on chromosome 4

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3
Q

Which gene mutation most commonly causes autosomal dominant PKD?

A

PKD1 on chromosome 16

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4
Q

Which mutation, causing autosomal dominant PKD, carries the worst prognosis?

A

PKD1 (chromosome 16)

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5
Q

What is the long-term consequence of untreated PKD?

A

Kidney failure

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6
Q

What happens in PKD?

A

Epithelium of renal tubules forms enlarged cysts

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7
Q

Is ADPKD unilateral or bilateral?

A

Bilateral

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8
Q

In PKD, the kidneys (increase / decrease) in size.

A

kidneys enlarge

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9
Q

What can occur in the epithelium in ADPKD?

A

Neoplasia

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10
Q

What are the symptoms of ADPKD?

A

Chronic loin pain

Dilute urine (Loops buggered so can’t concentrate it)

Haematuria

Hypertension (SEN)

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11
Q

What causes haematuria in PKD?

A

Rupture of cysts

Inflammation

Renal calculi

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12
Q

Cysts of which organ may be found alongside PKD?

A

Liver

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13
Q

What happens to

a) kidney function
b) liver function (if affected)

in ADPKD?

A

a) eGFR decreases

b) Liver function generally preserved

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14
Q

ADPKD has a lot of ___ manifestations.

A

systemic

liver, brain (stroke), cardiac (valve disease), GI (diverticulitis, hernia…)

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15
Q

Which imaging method is used to view the kidneys in ADPKD?

A

Ultrasound

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16
Q

How long are the kidneys normally?

A

10 - 12 cm

Any more than this e.g in ADPKD is abnormal

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17
Q

If an USS for cysts is inconclusive, what scan would you do?

A

MRI scan

18
Q

What is the percentage chance of your child inheriting ADPKD?

A

50%

As with all autosomal dominant disease

19
Q

How is ADPKD treated?

A

Control symptoms: hypertension, dehydration, ?proteinuria

Experimental drugs

Renal replacement therapy

20
Q

What experimental drug is used to reduce cyst volume and progression?

What are the criteria for using it?

A

Tolvaptan

eGFR < 60, renal volume > 700mls

21
Q

What are complications of ADPKD which need to be treated as they arise?

A

Haemorrhage

Infection

22
Q

When is dialysis indicated?

A

GFR < 15

23
Q

What is the rare type of polycystic kidney disease, commonly found in children?

A

Autosomal recessive PKD

24
Q

Which chromosome mutates in ARPKD?

A

Chromosome 6

25
Q

What part of the kidneys is affected by ARPKD?

A

Collecting ducts

vs renal tubules in ADPKD

26
Q

What slowly declines in ARPKD?

A

GFR

From birth

So generally fatal

27
Q

What syndrome presents with protein/haematuria, hearing lossandeye problems?

A

Alport syndrome

28
Q

What is the mode of inheritance of Alport syndrome?

A

X-linked

29
Q

What protein is abnormal in Alport syndrome?

A

Type IV collagen

don’t confuse with goodpasture’s

30
Q

What are the

a) renal
b) extra-renal

symptoms of Alport syndrome?

A

a) Haematuria, then proteinuria

b) Sensorineural HL, eye problems

31
Q

How is Alport syndrome investigated?

A

Renal biopsy

for abnormal GBM (Type IV collagen)

32
Q

How is Alport syndrome treated?

A

Control of proteinuria - antihypertensives, diabetes

Renal replacement therapy

33
Q

What is a rare X-linked condition causing renal, liver and lung problems?

What type of disease is it?

A

Anderson Fabry’s disease

Metabolic disease

34
Q

Which enzyme is defective in Anderson Fabry’s disease?

A

Alpha-galactosidase 1

35
Q

How is Fabry’s disease treated?

A

Enzyme replacement (fabryzyme)

36
Q

What is the difference between polycystic kidney disease and medullary cystic kidney disease?

A

MCKD - renal tubules FIBROSE so kidneys get SMALLER

PKD - cysts, kidneys get bigger

37
Q

How do the kidneys change in size in

a) medullary cystic kidney disease
b) polycystic kidney disease?

A

a) Smaller

b) Bigger

38
Q

How is medullary cystic kidney disease treated?

A

Kidney transplant

39
Q

medullary sponge kidney

A
40
Q

look over summary

A

Renal Week 2 2017/18 (11 decks)

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