Polycystic Kidney disease

Question 1

what is polycystic kidney disease?

Answer 1

a genetic condition which results in fluid filled cysts in the kidneys. it causes a decrease in kidney function.

Question 2

what is the genes involved in autosomal dominant polycystic kidney disease?

Answer 2

PKD-1 (85%)

PDK-2(15%)

Question 3

what is the genes involved in autosomal recessive polycystic kidney disease?

Answer 3

Chromosome 6

Question 4

what are the manifestations of ADPKD?

Answer 4

Hepatic cysts, colon diverticula, pancreatic cysts, berry aneurysm, ovarian cysts, prostatic cysts, aortic root dilatation, cardiovascular disease

Question 5

What are the complications of ADPKD?

Answer 5

end stage renal failure, gross Haematuria, hypertension, chronic loin pain, renal stones, cardiovascular disease.

Question 6

What is treatment of ADPKD?

Answer 6

Tolvaptan (vasopressin receptor antagonist). + symptom management.

Question 7

what is the onset of PDK1, PDK2, and autosomal recessive?

Answer 7

PDK 1 - more severe of the dominant types (adulthood earlier on)
PDK-2 (less severe of the dominant type) - later on in adulthood.

Autosomal recessive - before childbirth - very severe.