Inherited renal disorders

Question 1

Which mutation in ADPKD occurs in 85% of cases?

Answer 1

PKD gene 1 (located on chromosome 16)

Question 2

Which mutation in ADPKD occurs in 15% of cases?

Answer 2

PKD2 (located on chromosome 4)

Question 3

In which ADPKD mutations to patients develop end stage kidney disease earlier?

Answer 3

PKD1

Question 4

How big are the kidneys in ADPKD?

Answer 4

20-25cm

Question 5

Clinical features of ADPKD

Answer 5

Reduced urine concentrating ability 
Chronic pain (stretching of capsule) 
Hypertension 
Haematuria 
Cyst infection 
Renal failure

Question 6

What are the extra renal features of ADPKD?

Answer 6

Hepatic cysts 
Intra cranial aneurysm 
Cardiac disease 
Diverticular disease 
Hernias

Question 7

When do liver cysts tend to present in ADPKD?

Answer 7

10 yars after renal cysts

Question 8

What problems can be caused by heaptic cysts in ADPKD?

Answer 8

SOB
Pain
Ankle swelling

Question 9

Which cardiac problems aare associated with ADPKD?

Answer 9

Mitral/aortic valve prolapse

Valvular disease

Question 10

How is ADPKD diagnosed?

Answer 10

USS (CT/MRI when unclear o USS)

Question 11

When does ADPKD tend to present in children?

Answer 11

Early onset can be seen in uteri or first year of life

Question 12

Management of ADPKD

Answer 12

Hypertension control

Hydratioon Proteinuria reduction

Question 13

What new treatment is being developed to reduce cyst volume & progression?/

Answer 13

Tolvaptan

Question 14

What is ASPKD heavily associated with?

Answer 14

Hepatic fibrosis

Question 15

Which gene is responsible for ARPKD?

Answer 15

PKDh1 (chromosome 6)

Question 16

Histological findings of ARPKD?

Answer 16

Cyst seen appearing from the collecting duct system

Question 17

Clinical presentation of ARPKD

Answer 17

Kidneys always palpable
Hypertension
Recurrent UTI
Slow decline in GFR

Question 18

Investigation for ARPKD

Answer 18

USS/CT/MRI

Question 19

Prognosis of ARPKD

Answer 19

High mortality

Question 20

How is Alports syndrome passed on?

Answer 20

X linked inheritance

Question 21

What is Alport’s syndrome?

Answer 21

Disorder of Type IV collagen matrix

Question 22

Clinical renal presentation of Alport’s syndrome?

Answer 22

Haematuria

roteinuria

Question 23

What extra renal presentation can Alport’s present with?

Answer 23

Sensorineural deafness

Ocular defects

Question 24

Treatment of Alport’s

Answer 24

No specific treatment
Standard aggressive treatment of BP, proteinuria
Dialysis/transplantation

Question 25

What is Anderson Fabrys disease

Answer 25

Inborn error of glycosphingoilipid metabolism

Question 26

What is there a deficiency of in Anderson Fabrys?

Answer 26

a-galactosidae A

Question 27

Clinical features of Anderson Fabrys

Answer 27

Renal failure 
Angiokeratomas
Cardiomyopathy 
Valvular disease 
Neuro (stroke) 
Psychiatric

Question 28

How is Anderson-Fabrys diagnosed?

Answer 28

Plasma/leukocyte a-GAL activity

Renal/skin biopsy

Question 29

Treatment of Anderson Fabrys?

Answer 29

Enzyme replacement (Fabryzyme)

Question 30

What is medullary cycstic kidney?

Answer 30

Rare autosomal dominant inherited kidney disease with morphologically abnormal renal tubules leading to fibrosis

Question 31

Where are cysts normally found in medullary cystic kidney?

Answer 31

Corticomedullary junction or medulla

Question 32

What age does medullary kidney disease usually present?

Answer 32

28 y/o

Question 33

How is medullary kidney disease diagnosed?

Answer 33

Ct scan (+ family history)

Question 34

Treatment of medullary cystic kidneys

Answer 34

Transplant

Question 35

What is medullary sponge kidney

Answer 35

Sproadic dilation of collecting ducts

Question 36

How is medullary sponge kidney diagnosed?

Answer 36

Secretion urography to demarcate calculi