Congenital kidney disease

Question 1

What is APKD?

Answer 1

Most common inherited kidney disorder.

AD condition due to mutations in either PKD1 or 2, causing cyst formation and kidney failure

Question 2

What are Sx of APKD?

Answer 2

• Loin pain
  
  • Haematuria
  • Cyst infection
  • Renal stones
    High BP

Question 3

What are Ix in APKD?

Answer 3

Renal US: see multiple cysts

Bloods

Genetic testing

Question 4

When should people with family history get an US?

Answer 4

Age 21, if -ve repeat at 30

If no FH, diagnosis can be made by > 10 cysts in both kidneys with renal enlargement

Question 5

What is Alport syndrome?

Answer 5

X linked disorder caused by defect in the gene which codes for type IV collagen resulting in an abnormal glomerular-basement membrane (GBM).

Question 6

What are Sx of Alport syndrome?

Answer 6

Usually presents in childhood 
	- microscopic haematuria
	- progressive renal failure
	- bilateral sensorineural deafness
	- lenticonus: protrusion of the lens surface into the anterior chamber
retinitis pigmentosa

Question 7

What Ix in Alport syndrome?

Answer 7

renal biopsy: splitting of lamina densa on EM

genetic testing