Inherited Renal Disease

Question 1

Which mutation causing ADPKD is most common?

Answer 1

PKD1

Question 2

The PKD gene 1 mutation, accounting for 85% of cases of ADPKD is found on which chromosome?

Answer 2

16

Question 3

The PKD gene 2 mutation, accounting for 15% of cases of ADPKD is found on which chromosome?

Answer 3

4

Question 4

What happens to the size of the kidneys in polycystic kidney disease?

Answer 4

They are enlarged

Question 5

In addition to cysts, which other benign pathology is seen in the kidneys of 25% of those with ADPKD?

Answer 5

Adenomas

Question 6

Patients with ADPKD caused by a PKD1 mutation tend to develop ESRF around what age?

Answer 6

50

Question 7

Patients with ADPKD caused by a PKD2 mutation tend to develop ESRF around what age?

Answer 7

70

Question 8

Why may patients with ADPKD experience pain and haematuria?

Answer 8

Cyst haemorrhage or rupture

Question 9

What is the mean age of development of hypertension in patients with ADPKD?

Answer 9

31

Question 10

What are the two most significant extra-renal manifestations of ADPKD?

Answer 10

Hepatic cysts and berry aneurysms

Question 11

When do liver cysts tend to present in individuals with ADPKD?

Answer 11

10 years after renal cysts

Question 12

Do the liver cysts seen in ADPKD have any effect on liver function?

Answer 12

Usually not

Question 13

Rupture of a berry aneurysm in someone with ADPKD leads to what?

Answer 13

Subarachnoid haemorrhage

Question 14

Berry aneurysms associated with ADPKD are normally located in which vascular territory of the brain?

Answer 14

Anterior circulation

Question 15

Which cardiac abnormalities are associated with ADPKD?

Answer 15

Mitral/aortic valve prolapse

Question 16

There is an increased risk of which GI condition and its complications in individuals with ADPKD?

Answer 16

Diverticular disease

Question 17

Which imaging investigation is used first line to identify ADPKD?

Answer 17

Renal ultrasound

Question 18

Which imaging investigation can measure the volume of cysts in ADPKD?

Answer 18

MRI

Question 19

What investigation is used to screen for berry aneurysms in individuals with an affected first degree family member with ADPKD?

Answer 19

MR angiogram

Question 20

Management of ADPKD involves rigorous control of hypertension and proteinuria with what drugs?

Answer 20

ACE inhibitor or ARB

Question 21

How should fluid and salt intake be altered in individuals with ADPKD?

Answer 21

High fluid intake, low salt intake

Question 22

Tolvaptan is a drug licensed to treat which inherited renal condition?

Answer 22

ADPKD

Question 23

What type of drug is tolvaptan?

Answer 23

V2 vasopressin receptor antagonist

Question 24

The offspring of an individual with ADPKD has what % chance of inheriting the condition?

Answer 24

50%

Question 25

Sometimes it can be difficult to distinguish between AD and AR polycystic kidney disease in children. What feature on ultrasound would be suggestive of recessive disease?

Answer 25

Congenital hepatic fibrosis

Question 26

Who is ARPKD seen in?

Answer 26

Young children

Question 27

ARPKD is always associated with what other feature?

Answer 27

Hepatic lesions

Question 28

The gene affected in ARPKD is found on which chromosome?

Answer 28

6

Question 29

In ARPKD, cysts appear from which part of the kidney?

Answer 29

Collecting ducts

Question 30

How may ARPKD present?

Answer 30

Palpable kidneys, hypertension and recurrent UTIs

Question 31

Is there any specific therapy for ARPKD?

Answer 31

No

Question 32

In the majority of cases affecting adults, how is medullary cystic kidney inherited?

Answer 32

Autosomal dominant

Question 33

What happens to the size of the kidneys in medullary cystic kidney?

Answer 33

They are normal or small

Question 34

Clinical features of medullary cystic kidney are due to enuresis. What are some examples of these features?

Answer 34

Polyuria, polydipsia, salt wasting

Question 35

How is medullary cystic kidney usually treated?

Answer 35

Renal transplant

Question 36

How is medullary sponge kidney inherited?

Answer 36

Sporadically

Question 37

The cysts in medullary sponge kidney are associated with what other abnormality?

Answer 37

Calculi

Question 38

How is Alport's syndrome inherited?

Answer 38

X linked

Question 39

Alport's syndrome is caused by a deficiency of what?

Answer 39

Type IV collagen

Question 40

What is the characteristic feature of Alport's syndrome?

Answer 40

Haematuria

Question 41

The presence of what in the urine confers a bad prognosis in Alport's syndrome?

Answer 41

Protein

Question 42

What are the two most common extra-renal features of Alport's syndrome?

Answer 42

Sensorineural hearing loss and ocular defects

Question 43

A renal biopsy of Alport's syndrome shows what?

Answer 43

Splitting (variable thickness) of the GBM

Question 44

Is there any specific treatment for Alport's syndrome?

Answer 44

No

Question 45

How is Anderson-Fabry's disease inherited?

Answer 45

X linked

Question 46

Anderson-Fabry's disease is caused by a deficiency of what?

Answer 46

Alpha-galactosidase A

Question 47

What is the main dermatological feature of Anderson-Fabry's disease?

Answer 47

Angiokeratomas

Question 48

How is Anderson-Fabry's disease treated?

Answer 48

Enzyme replacement therapy