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Autosomal Dominant Polycystic Kidney Disease (ADPKD) (Treatment (High…
Autosomal Dominant Polycystic
Kidney Disease
(ADPKD)
1 in 400 to 1 in 1,000 babies are born with it
Approximately 400,000 people in the United States
2 genes associated with ADPKD
PKD1(85%)
PKD2(15%)
genetic disorder characterized by the growth of
numerous fluid filled cysts in both kidneys
Expanding cysts slowly replace much of the normal mass of the kidneys. Can reduce kidney function and lead to kidney failure
Many people live for decades without developing symptoms
May also develop cysts in other organs such as the liver and pancreas
abnormalities of blood vessels
high blood pressure
hypertension is the most common problem as a result of ADPKD
aneuryems
heart valve defects
abdominal wall hernias
Kidney disease
Diagnosed using ultrasound, CT scan or MRI studies of kidneys
Must have an increasing amount of cysts in kidneys as age increases to be diagnosed
Treatment
High Blood pressure medicine to combat hypertension
Pain medication for kidney pain
Removal of fluid in cysts
When kidney's begin to fail, medicene to slow failure
Dyalisis or renal transplant
If parent has disease, there is a 50% chance their child will have it(Autosomal Dominance)
Parents often pass it on, but 1/5 of new cases come from new mutations