Inherited Kidney Disease

Question 1

Autosomal dominant disease presents in which age group

Answer 1

Adults

Question 2

Autosomal recessive disease presents in which age group

Answer 2

Children

Question 3

Which genes can be mutated in autosomal dominant disease (ADPKD)

Answer 3

PKD 1

PKD 2

Question 4

Symptoms of ADPKD

Answer 4

Pain
Abdominal mass
Haematuria
Hypertension
Reduced ability to concentrate urine

Question 5

Where are the cysts in ADPKD

Answer 5

Anywhere in nephron

Also occur in liver and lung (non-functional)

Question 6

Diagnosis of ADPKD

Answer 6

Ultrasound- renal enlargement, multiple bilateral cysts

Question 7

Treatment of ADPKD

Answer 7

Control hypertension- ACEi

Break down any renal stones with lithotripsy

Question 8

Complication of ADPKD

Answer 8

Berry aneurysm - subarachnoid haemorrhage

Question 9

Prognosis of infantile PKD

Answer 9

High mortality in first month of life, causes renal failure

Question 10

What is infantile PKD associated with

Answer 10

Hepatic fibrosis

Question 11

What condition should you suspect in a patient with haematuria + hearing loss

Answer 11

Alports syndrome (hereditary nephritis)

Question 12

How is alports syndrome inherited

Answer 12

X linked

Question 13

characteristic feature on biopsy of alports syndrome

Answer 13

Variable thickness GBM

Question 14

what is deficient in anderson fabrys disease

Answer 14

Alpha galactosidase A

Question 15

inheritance of anderson fabrys disease

Answer 15

X linked

Question 16

Features of anderson fabrys disease

Answer 16

Renal failure
Cutaneous angiokeratomas (telangiectasia in umbilical area)
Cardiomyopathy
Stroke

Question 17

Treatment of anderson fabrys

Answer 17

Enzyme replacement

Question 18

Inheritance of medullary cystic disease

Answer 18

Autosomal dominant

Question 19

What is abnormal in medullary cystic disease

Answer 19

renal tubules- fibrosis

Question 20

Treatment of medullary cystic disease

Answer 20

transplant