Understanding the Kidneys and Polycystic Kidney Disease
The kidneys are two organs, each about the size of a fist, located toward the back of a person's upper abdomen. These organs filter wastes from the blood to form urine. They also regulate amounts of certain vital substances in the body.
When a person has autosomal recessive
polycystic kidney disease, clusters of fluid-filled sacs (cysts) develop in the kidneys. 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. Symptoms of autosomal recessive polycystic kidney disease occur because of these cysts and the damage they cause. Cysts may also develop in other organs, particularly the liver, spleen, and
pancreas.
Humans normally have a total of 46 chromosomes (which are tiny, DNA-containing elements) that are present in every cell of the body. DNA encodes genes, which specify all the proteins that make up the body and control its functions.
In humans, there are 23 pairs of chromosomes in cells; one pair inherited from each parent at conception. Each cell contains 22 pairs of chromosomes, called autosomes, that are the same in males and females. The remaining pair of chromosomes, the X and Y chromosomes, is not shaped similarly, and thus is not matched in the same way as the autosomes.
A genetic disease occurs when one or both parents pass abnormal genes to a child at conception. An "autosomal recessive" genetic disease occurs when each parent passes a defective gene to the fetus during conception.
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