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Polycystic Kidney Disease (PKD)
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  1. Polycystic Kidney Disease (PKD) Sidney Littleton

  2. What is PKd? • Polycystic Kidney Disease affects an estimated 1 in 500 people, including newborns, children and adults regardless of sex, age, race or ethnic origin. It comes in two forms: • 

1. Autosomal dominant (ADPKD) the most common life-threatening genetic diseases. It does not skip a generation. There is usually a family history of ADPKD. Parents have a 50 percent chance of giving their children the disease • 2. Autosomal recessive (ARPKD) is a relatively rare genetic disorder, occurring in approximately 1 in 20,000 individuals. It often causes significant mortality in the first month of life. • A normal kidney is the size of a human fist and weighs about a third of a pound. However, with the presence of PKD, cysts develop in both kidneys. When many cysts develop, the kidneys grow in size and weight. The cysts may range in size from a pinhead to the size of a grapefruit. The additional size can cause the crowding of other organs, which can become uncomfortable and even painful

  3. Symptoms of PKD High blood pressure(60-70% in men and 40-50% in women) Chronic pain the sides, back or abdomen Blood in the urine UTI Kidney stones

  4. pedigree • Autosomal dominant (ADPKD) is an autosomal genetic disease. Parents who have the disease have a 50% chance of giving it to their children. • If a disease is autosomal dominant, it means you only need to get the abnormal gene from one parent in order for you to inherit the disease. An abnormal gene on the first 22 non sex chromosomes from either parent can cause an autosomal disorder.

  5. Questions How can I slow or stop PKD? Control your blood pressure, eat healthy, maintain a healthy body weight, control cardiovascular risk factors, avoid medicine that could potentially harm the kidneys. Can I prevent PKD? There is currently no treatment for the enlargement or formation of cysts on the kidneys. The only full treatment because it is a genetic disease is to not have children. Will my child have PKD? • PKD is autosomal dominant and does not skip a generation so the risks of your child having PKD is around 50%

  6. Living with PKD • If you have symptoms of PKD or have family members who have or had PKD my recommendation would be to get tested using one of the three tests including ultrasound, computed tomography (CT) or magnetic resonance imaging (MRI). The ultrasound is the most common and least expensive, The CT and MRI’s seem to be more sensitive but these methods have not been systematically analyzed yet. The CT scan requires radiation requires iodinated contrast dye which can be toxic to the kidneys. CT or MRI’S are indicated to see if there isbleeding into a cyst etc. My recommendation if you are diagnosed or have parents with PKD is to not have children. PKD is a genetic disease and will probably passed on to your children and the next generations to come. This is not what most couples what to hear but this is the safest option when thinking about having children. • Working with PKD can be difficult as PKD advances. It all just depends on how your able to deal with the changes in your body. • Moderate alcohol intake is okay with PKD. The recommendation is two drinks for men and one drink for women per day. • Most sports do not effect kidney function. It is recommended to exercise to maintain a healthy weight, and cardiovascular risk factors.

  7. Citation • http://www.pkdcure.org/learn/adpkd/living-with-pkd-questions