PKD

Question 1

What is autosomal recessive PKD

Answer 1

Rare genetic disorder affecting children/neonates causing renal failure

Question 2

Presentation of AR PKD

Answer 2

Stillbirth frequently from oligohydramnios. Small minority late infancy, develop manifestations of hepatic involvement, ESRF by adulthood

Question 3

Prognosis of AR PKD

Answer 3

1/3 die as neonate. 1/ survive into childhood

Question 4

Management of AR PKD

Answer 4

Dialysis and kidney transplant

Question 5

Genetic cause of autosomal dominant PKD

Answer 5

85% caused by mutation in PKD1 gene and 15% by mutation of PKD2 gene (less severe)

Question 6

Pathology of AD PKD

Answer 6

There is cystic dilation of renal tubular epithelium, the expanding bilateral kidney cysts cause enlargement and obstruction of renal parenchyma. Cysts in medulla and cortex, can be filled with clear, turbid or haemorrhagic fluid. Leads to CRF

Question 7

Presentation of AD PKD

Answer 7

Silent until signs and symptoms of CKD appear around 20-25 years

Question 8

Renal symptoms of AD PKD

Answer 8

Flank pain, renal dysfunction, HTN, haematuria, microalbuminaemia, polyuria, enlarged palpable kidneys

Question 9

Extra-renal symptoms in AD PKD

Answer 9

Cysts (liver 40%), mitral valve prolapse (20%), colonic diverticular and intracranial berry aneuysms

Question 10

Causes of death in AD PKD

Answer 10

Heart disease, infection, subarachnoid haemorrhage, intracerebral haemorrhage

Question 11

Supportive management of AD PKD

Answer 11

Anti-HTN, Abx, drain cysts, dialysis, transplant, Tolvatan, vassopressive antagonist to slow progression of cysts, avoid antiinflam and anticoags