genetics and the kidney Flashcards
1
Q
what is rare disease definition in Europe
A
1 in 2000
2
Q
ADPK genes
A
- Caused by mutation in 2 genes: Polycystin-1 (85%)& Polycystin-2 (15%)
- PKD proteins are involved together as calcium channels, intercellular adhesion molecules and in the movement of the renal epithelial cilia
- Knowing the genes has allowed growing cysts in the lab – see effectiveness of medications. Genetically engineer mice/zebrafish
3
Q
ADPK
A
systemic disease, cysts in kidney, liver, pancreas, affects arteries
4
Q
ADPK incidence
A
1 in 500-1000
4th most common cause of ESRD
5
Q
Tuberous sclerosis
A
systemic disease: kidney, cerebrum, facial rash
6
Q
genes causing Tuberous sclerosis
A
TSC1 & TSC2
