Genetic kidney disease

Question 1

When do you get renal failure with ADPKD?

Answer 1

50-70 years old

Question 2

ADPKD extra renal manifestations

Answer 2

Berry aneurysms (can cause intracranial haemorrhage)
Valvular HD
Dilatation of aorta
Diverticulosis
Pancreas, spleen, liver cysts
Epididymal cysts

Question 3

Why is it important to ask about FH of early stroke esp intracranial haemorrhage

Answer 3

Feature of ADPKD - berry aneurysms -> intracranial bleed

Question 4

How is ADPKD passed on

Answer 4

Heterogenous inheritance

Question 5

What genes are ADPKD caused by

Answer 5

PKD1 (Chr16p) - polycystin1
PKD2 (Chr4q) - polycystin2
Subfamily of transient receptor potential (TRP)

Question 6

Is ADPKD always genetic

Answer 6

No - 80% of causes are inherited
10% are genetically unsolved

Question 7

How to examine for ADPKD

Answer 7

Deep breath in and feel flanks for massive kidneys

Question 8

How is Alport syndrome inherited

Answer 8

X linked inheritance - affects males

Question 9

Pathology of alports syndrome

Answer 9

Collagen 4A5 - encodes for protein in basement membranes of kidney, ear and inner ear and eye

Question 10

Symptoms

Answer 10

Early onset neural deafness
Haematuria, proteinuria
Anterior laticomis