Information for Patients
Genes are the building blocks of heredity. They are passed from parent to child. They hold DNA, the instructions for making proteins. Proteins do most of the work in cells. They move molecules from one place to another, build structures, break down toxins, and do many other maintenance jobs.
Sometimes there is a mutation, a change in a gene or genes. The mutation changes the gene's instructions for making a protein, so the protein does not work properly or is missing entirely. This can cause a medical condition called a genetic disorder.
You can inherit a gene mutation from one or both parents. A mutation can also happen during your lifetime.
There are three types of genetic disorders:
- Single-gene disorders, where a mutation affects one gene. Sickle cell anemia is an example.
- Chromosomal disorders, where chromosomes (or parts of chromosomes) are missing or changed. Chromosomes are the structures that hold our genes. Down syndrome is a chromosomal disorder.
- Complex disorders, where there are mutations in two or more genes. Often your lifestyle and environment also play a role. Colon cancer is an example.
Genetic tests on blood and other tissue can identify genetic disorders.
NIH: National Library of Medicine
You have two kidneys, each about the size of your fist. They are near the middle of your back, just below the rib cage. Inside each kidney there are about a million tiny structures called nephrons. They filter your blood. They remove wastes and extra water, which become urine. The urine flows through tubes called ureters. It goes to your bladder, which stores the urine until you go to the bathroom.
Most kidney diseases attack the nephrons. This damage may leave kidneys unable to remove wastes. Causes can include genetic problems, injuries, or medicines. You have a higher risk of kidney disease if you have diabetes, high blood pressure, or a close family member with kidney disease. Chronic kidney disease damages the nephrons slowly over several years. Other kidney problems include
Your doctor can do blood and urine tests to check if you have kidney disease. If your kidneys fail, you will need dialysis or a kidney transplant.
NIH: National Institute of Diabetes and Digestive and Kidney Diseases