What is Polycystic Kidney Disease ?
Polycystic kidney disease (PKD) is a genetic disorder characterized by the growth of numerous cysts in the kidneys. The kidneys are two organs, each about the size of a fist, located in the upper part of a person's abdomen, toward the back. The kidneys filter wastes and extra fluid from the blood to form urine. They also regulate amounts of certain vital substances in the body. When cysts form in the kidneys, they are filled with fluid. PKD cysts can profoundly enlarge the kidneys while replacing much of the normal structure, resulting in reduced kidney function and leading to kidney failure.
When PKD causes kidneys to fail-which usually happens after many years-the patient requires dialysis or kidney transplantation. About one-half of people with the most common type of PKD progress to kidney failure, also called end-stage renal disease (ESRD).
PKD can also cause cysts in the liver and problems in other organs, such as blood vessels in the brain and heart. The number of cysts as well as the complications they cause help doctors distinguish PKD from the usually harmless "simple" cysts that often form in the kidneys in later years of life.
What Is Autosomal Dominant PKD ?
Autosomal dominant PKD is the most common inherited disorder of the kidneys. The phrase "autosomal dominant" means that if one parent has the disease, there is a 50 percent chance that the disease gene will pass to a child. In some cases-perhaps 10 percent-autosomal dominant PKD occurs spontaneously in patients. In these cases, neither of the parents carries a copy of the disease gene.
Many people with autosomal dominant PKD live for several decades without developing symptoms. For this reason, autosomal dominant PKD is often called "adult polycystic kidney disease." Yet, in some cases, cysts may form earlier in life and grow quickly, causing symptoms in childhood.
The cysts grow out of nephrons, the tiny filtering units inside the kidneys. The cysts eventually separate from the nephrons and continue to enlarge. The kidneys enlarge along with the cysts-which can number in the thousands-while roughly retaining their kidney shape. In fully developed autosomal dominant PKD, a cyst-filled kidney can weigh as much as 20 to 30 pounds. High blood pressure is common and develops in most patients by age 20 or 30.
What Are The Symptoms Of Autosomal Dominant PKD ?
The most common symptoms are pain in the back and the sides (between the ribs and hips), and headaches. The dull pain can be temporary or persistent, mild or severe.
People with autosomal dominant PKD also can experience the following complications : -
- Urinary tract infections, specifically in the kidney cysts
- Hematuria (blood in the urine)
- Liver and pancreatic cysts
- Abnormal heart valves
- High blood pressure
- Kidney stones;
- Aneurysms (bulges in the walls of blood vessels) in the brain
- Diverticulosis (small pouches bulge outward through the colon).
How Is Autosomal Dominant PKD Treated ?
Although a cure for autosomal dominant PKD is not available, treatment can ease symptoms and prolong life.
Pain : Pain in the area of the kidneys can be caused by cyst infection, bleeding into cysts, kidney stone, or stretching of the fibrous tissue around the kidney with cyst growth. A doctor will first evaluate which of these causes are contributing to the pain to guide treatment. If it is determined to be chronic pain due to cyst expansion, the doctor may initially suggest over-the-counter pain medications, such as aspirin or acetaminophen (Tylenol). Consult your doctor before taking any over-the-counter medication because some may be harmful to the kidneys. For most but not all cases of severe pain due to cyst expansion, surgery to shrink cysts can relieve pain in the back and sides. However, surgery provides only temporary relief and does not slow the disease’s progression toward kidney failure.
Headaches that are severe or that seem to feel different from other headaches might be caused by aneurysms—blood vessels that balloon out in spots—in the brain. These aneurysms could rupture, which can have severe consequences. Headaches also can be caused by high blood pressure. People with autosomal dominant PKD should see a doctor if they have severe or recurring headaches—even before considering over-the-counter pain medications.
Urinary tract infections : People with autosomal dominant PKD tend to have frequent urinary tract infections, which can be treated with antibiotics. People with the disease should seek treatment for urinary tract infections immediately because infection can spread from the urinary tract to the cysts in the kidneys. Cyst infections are difficult to treat because many antibiotics do not penetrate the cysts.
High blood pressure : Keeping blood pressure under control can slow the effects of autosomal dominant PKD. Lifestyle changes and various medications can lower high blood pressure. Patients should ask their doctors about such treatments. Sometimes proper diet and exercise are enough to keep blood pressure controlled.
End-stage renal disease : After many years, PKD can cause the kidneys to fail. Because kidneys are essential for life, people with ESRD must seek one of two options for replacing kidney functions: dialysis or transplantation. In hemodialysis, blood is circulated into an external filter, where it is cleaned before re-entering the body; in peritoneal dialysis, a fluid is introduced into the abdomen, where it absorbs wastes and is then removed. Transplantation of healthy kidneys into ESRD patients has become a common and successful procedure. Healthy—non-PKD—kidneys transplanted into PKD patients do not develop cysts.
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