About PKD
Jodi and millions of people worldwide suffer from Polycystic Kidney Disease. With your support, we can make a difference.
About PKD
Polycystic kidney disease (PKD) is an inherited, chronic disorder in which clusters of cysts develop primarily within your kidneys, causing your kidneys to enlarge, change shape, and inevitably lose function over time. The cysts, which are noncancerous, vary in size, and can grow quite large, and can do great damage to the kidney’s ability function. Among other issues, PKD can bring about other health complications like high blood pressure and problems with blood vessels in your brain and heart.
While PKD varies greatly in its severity, and some complications are preventable, nany people affected by the disease experience significant physical pain and/or discomfort, which can be debilitating.
Polycystic kidney disease can also lead to the development of cysts in the liver, and can ultimately lead to kidney failure.
There Are Two Types of PKD…
Autosomal Dominant (ADPKD)
Autosomal dominant polycystic kidney disease (ADPKD) is the most common form of PKD. ADPKD affects 1 in every 400 to 1,000 people and is the most common kidney disorder passed down through family members. Healthcare providers usually diagnose ADPKD between the ages of 30 and 50, when signs and symptoms start to appear, which is why it is sometimes called “adult PKD.”
“Autosomal dominant” means you can get the PKD gene mutation, or defect, from only one parent. Researchers have found two different gene mutations that cause ADPKD. Most people with ADPKD have defects in the PKD1 gene, and 1 out of 6 or 1 out of 7 people with ADPKD have a defective PKD2 gene.
Healthcare providers can diagnose people with PKD1 sooner because their symptoms appear sooner. People with PKD1 also usually progress more quickly to kidney failure than people with PKD2.
How quickly ADPKD progresses also differs from person to person.
Autosomal Recessive (ARPKD)
Autosomal recessive polycystic kidney disease (ARPKD) is a rare genetic disorder that affects 1 in 20,000 children. A fetus or baby with ARPKD has fluid-filled kidney cysts that may make the kidneys too big, or enlarged. ARPKD can cause a child to have poor kidney function, even in the womb. ARPKD is sometimes called “infantile PKD” because health care providers can diagnose it so early in life.
Poor kidney function can cause breathing problems that can threaten the life of a fetus or baby. About 30 percent of newborns with ARPKD die within their first week of life. A baby with ARPKD who survives birth and the first few weeks of life has a good chance of surviving into adulthood. However, children or young adults with ARPKD will likely need medical treatment their whole life.
“Autosomal recessive” means that for a child to have this disorder, both parents must have and pass along the gene mutation. If only one parent carries the mutated gene, the child will not get the disorder, although the child may get the gene mutation. The child is a “carrier” of the disorder and can pass the gene mutation to the next generation.
How quickly ARPKD progresses to kidney failure is different for each child. The sooner a fetus is diagnosed in the womb, the better the child’s outlook. Getting good prenatal care is important for increasing a child’s survival rate. Working with a health care team as soon as possible can help parents manage their child’s PKD.
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