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Created on: June 10, 2009
POLYCYSTIC KIDNEY DISEASE
Polycystic kidney disease (PKD) is an inherited disorder. It is the fourth leading cause of kidney failure in the United States, affecting approximately 600,000 people.
Normally the human body has two kidneys. They are located within the abdominal cavity, one on each side toward the back, roughly in the area of the waistline. Their function is to filter waste out of the blood stream, turning it into urine which the body disposes of by way of the bladder.
Healthy kidneys are not large, about the size of a fist, weighing between 120-140 grams each (1 pound =453.59237 grams). When PKD is present the growth of cysts, that can number in the thousands, causes the kidney to become enlarged. They have been known to reach 20 to 30 pounds. This reduces kidney function, leading to kidney failure.
Autosomal Dominate PKD
Autosomal Dominate PKD (autosomal simply refers to any chromosome that is not a sex chromosome) is responsible for approximately 90% of the cases of this inherited condition, making it the number one cause. It has been known to develop in childhood, but more commonly between the ages of 30 and 40. This late forming type is sometimes called Adult Polycystic Kidney Disease (APKD).
Autosomal Dominate PKD occurs spontaneously in about 10% of patients, with neither parent carrying the gene for the disease. However, if just one parent carries the gene, the chances for development of PKD in the child are five times greater.
Back pain between the ribcage and hips, sometimes accompanied by a headache, are about the only warning signs of PKD. The pain may be mild or severe, occasional or constant, and causes a great deal of discomfort when walking.
Although the symptoms are few the complications can be many. The following list is not all inclusive.
Bloody urine (hematuria)
Brain aneurysms
Colon problems (diverticulosis)
Heart valve abnormality
Liver cysts
Pancreatic cysts
Urinary tract infections
Autosomal Recessive PKD
Autosomal Recessive Inheritance is responsible for a rare inherited form of Polycystic Kidney Disease known as Autosomal Recessive PKD. Even in the womb symptoms may be present. This is also know as Infantile PKD. In the more severe cases the baby dies within hours or days after birth. Those who survive often, but not always, suffer kidney failure before attaining adulthood.
In other cases Autosomal Recessive PKD may remain dormant for years with symptoms developing in
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