| Medical Dictionary |
A Medical Dictionary of Medical Terminology
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A kidney stone is a solid piece of material that forms in the kidney from substances in the urine. It may be as small as a grain of sand or as large as a pearl. Most kidney stones pass out of the body without help from a doctor. But sometimes a stone will not go away. It may get stuck in the urinary tract, block the flow of urine and cause great pain.
The following may be signs of kidney stones that need a doctor's help:
Your doctor will diagnose a kidney stone with urine, blood, and imaging tests.
If you have a stone that won't pass on its own, you may need treatment. It can be done with shock waves; with a scope inserted through the tube that carries urine out of the body, called the urethra; or with surgery.
NIH: National Institute of Diabetes and Digestive and Kidney Diseases
Genetic disorders are health conditions caused by changes (also called mutations or variants) in your genes. Genes are parts of DNA found in your cells that carry instructions for how your body grows, develops, and functions. Many genes tell your body how to make proteins, which are needed for your body to work properly.
What causes genetic disorders?A genetic disorder happens when a gene variant changes how a protein is made. The variant may cause the protein to work poorly or not be made at all. If genes don't make the right proteins, or don't make them correctly, it can lead to a genetic disorder.
Not all gene changes cause disease. Often, these changes have no effect. But sometimes, even a small change in DNA can affect how proteins are made.
Gene variants can be grouped into two main types:
Genetic disorders may be caused by:
Some genetic conditions are passed down through families (inherited) in one of several patterns, depending on the specific gene involved.
Patterns of inheritance can include:
Your health care provider may check for a genetic condition based on:
NIH: National Library of Medicine