9: Inherited renal disorders Flashcards Preview

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

Flashcards in 9: Inherited renal disorders Deck (40)
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1

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

Autosomal dominant

2

What mutations cause autosomal dominant polycystic disease?

Which chromosome is involved?

PKD1 on chromosome 16

PKD2 on chromosome 4

3

Which gene mutation most commonly causes autosomal dominant PKD?

PKD1 on chromosome 16

4

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

PKD1 (chromosome 16)

5

What is the long-term consequence of untreated PKD?

Kidney failure

6

What happens in PKD?

Epithelium of renal tubules forms enlarged cysts

7

Is ADPKD unilateral or bilateral?

Bilateral

8

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

kidneys enlarge

9

What can occur in the epithelium in ADPKD?

Neoplasia

10

What are the symptoms of ADPKD?

Chronic loin pain

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

Haematuria

Hypertension (SEN)

11

What causes haematuria in PKD?

Rupture of cysts

Inflammation

Renal calculi

12

Cysts of which organ may be found alongside PKD?

Liver

13

What happens to

a) kidney function

b) liver function (if affected)

in ADPKD?

a) eGFR decreases

b) Liver function generally preserved

14

ADPKD has a lot of ___ manifestations.

systemic

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

15

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

Ultrasound

16

How long are the kidneys normally?

10 - 12 cm

Any more than this e.g in ADPKD is abnormal

17

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

MRI scan

18

What is the percentage chance of your child inheriting ADPKD?

50%

As with all autosomal dominant disease

19

How is ADPKD treated?

Control symptoms: hypertension, dehydration, ?proteinuria

Experimental drugs

Renal replacement therapy

20

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

What are the criteria for using it?

Tolvaptan

eGFR < 60, renal volume > 700mls

21

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

Haemorrhage

Infection

22

When is dialysis indicated?

GFR < 15

23

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

Autosomal recessive PKD

24

Which chromosome mutates in ARPKD?

Chromosome 6

25

What part of the kidneys is affected by ARPKD?

Collecting ducts

vs renal tubules in ADPKD

26

What slowly declines in ARPKD?

GFR

From birth

So generally fatal

27

What syndrome presents with protein/haematuria, hearing loss and eye problems?

Alport syndrome

28

What is the mode of inheritance of Alport syndrome?

X-linked

29

What protein is abnormal in Alport syndrome?

Type IV collagen

don't confuse with goodpasture's

30

What are the

a) renal

b) extra-renal

symptoms of Alport syndrome?

a) Haematuria, then proteinuria

b) Sensorineural HL, eye problems