Kidney+Project+CC

Polycycstic Kidney Disease A kidney usually filters toxins in the blood and gets rid of them through urine PKD is when multiple cysts grow inside one's kidneys, usually leading to kidney failure, meaning the kidney no longer filters toxins out of the blood. Autosomal Dominant polycystic disease, there are two genes (PKD1-- chromosome 16, PKD2-- chromosome 40 that can cause these cysts to grow if mutated. Everyone has a copy of both PKD1 AND PKD2 from each parent. When someone has a mutation in one of the genes, it leads to PKD. It is possible to live a normal life with just one working copy of PKD1 and PKD2, but it seems that if one is mutated the other usually ends up have random mutations as well. WHen someone has a mutation in one of the genes, every kidney cell has that mutation when someone has two mutated copies of both genes is when the cysts begin to form PKD1 and PKD2 are what produce two important proteins, polycyctin 1 and 2. These proteins form a channel on the surface of the cell, allowing small molecules to enter which then identify the cell as a kidney cell and trigger production of kidney structures and normal structures are not formed The undetermined cells then grow in to the cysts in the cells. As the cysts grow they can also block other normal kidney cells from filtering blood, eventually making the kidney fail.

Autosomal Dominant PKD dominant genetic disorder--> you only need to inherit one mutation from on of the parents in one of the PKD genes to get PKD about 10 % of the cases are due to spontaneous mutations, where neither of the parents have the disease but a gene is mutated in the child

Autosomal Recessive PKD recessive genetic disorder--> you must inherit mutations in genes from both parents to develop PKD so that the child inherits one PKD gene from the father and one from the mother