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What Is Polycystic Kidney Disease?

Source: Mayo Clinic, Cleveland Clinic, Johns Hopkins Medicine

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Polycystic kidney disease, or PKD, is a genetic disorder that is characterized by clusters of cysts (fluid-filled sacs) in the kidneys. As the cysts become larger, they cause the kidneys to swell and eventually lose functionality. They may also spread to the liver or other areas in the body. High blood pressure and kidney failure are known complications of PKD. Some individuals may not realize that they have PKD for many years.

Forms of polycystic kidney disease

There are two kinds of PKD: Autosomal dominant PKD (ADPKD) and autosomal recessive PKD (ARPKD). ADPKD symptoms usually begin to surface between ages of 30 to 40; however, they can appear earlier. This is the most common form of PKD. ARPKD is less common with symptoms that typically begin to manifest shortly after birth, but may not appear until childhood or adolescence. It may also result in abnormal kidney development while still in the uterus.

Symptoms

Symptoms of PKD include, but are not limited to, the following:

Kidney stones
Kidney failure
Liver or pancreatic cysts
Heart valve abnormalities
Urinary tract or kidney infections
Back or side pain
Increased size of abdomen
Feeling of fullness in abdomen
Blood in urine
Headaches
High blood pressure
Brain aneurysms

Additional symptoms that are specific to ARPKD include, but are not limited to, the following:

Low birth weight
Liver scarring
Low blood cell counts
Varicose veins
Stunted growth
Enlarged kidneys
Low amniotic fluid levels

Causes

PKD is a genetic disease that is caused by a gene mutation. Normally, it is passed on from a parent to a child. In rare cases, a genetic mutation will occur spontaneously or due to extensive dialysis treatments.

Risk factors

Since PKD is genetic, the main risk factor is having a parent who has it. Children who are not diagnosed with PKD can still carry the mutation gene and pass it on to their offsprings.

Additional source: Verywell Health

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