![]() ![]() It is usually diagnosed during late childhood or adulthood. Gitelman syndrome is a kidney function disorder that causes an imbalance of charged atoms (ions) in the body, including ions of potassium, magnesium, and calcium. Gitelman syndromeĪn autosomal recessive inherited disorder which occurs when a person receives an abnormal copy of the SLC12A3 or CLCNKB genes from each parent. Heart disease is also more common among women with Fabry disease. However, women can still develop symptoms of Fabry disease, such as neuropathic pain and digestive problems. Women may have no symptoms or mild symptoms. Because of the way the Fabry disease is inherited, men tend to develop more severe symptoms and are at higher risk for kidney disease. Fabry disease can affect the heart, nervous system and kidneys. As a result, the body makes little or no alpha GAL, or the enzyme does not function properly. Fabry diseaseĪn inherited disorder that happens when the gene that controls the body's ability to make the enzyme, alpha GAL, is abnormal. Cystinosis can impact many parts of the body, including the eyes, muscles, brain, heart, white blood cells, thyroid, and pancreas as well as causing serious kidneys problems. In people with cystinosis, a buildup of cystine can lead to the formation of crystals. CystinosisĪn autosomal recessive inherited disorder, which occurs when a person receives an abnormal copy of the cystinosin gene from each parent. Many people with Alport syndrome also have hearing problems and abnormalities with their eyes due to the changes in their collagen genes. People with Alport syndrome have tiny blood vessels in the glomeruli of the kidneys that are damaged, which means they cannot filter the wastes and extra fluid produced by the body. Collagen is an important protein that is needed to maintain normal function in the kidneys. Alport syndrome is caused by changes (mutations) in collagen protein genes. Alport syndromeĪn inherited genetic disease that damages kidneys. The most serious complication of ADPKD is kidney disease and kidney failure. Treatment for ADPKD involves managing the symptoms and slowing disease progression. It is found equally in men and women and causes about 5% of all kidney failure. In the United States, about 1 in every 800 people have ADPKD and it is the fourth leading cause of kidney failure. ADPKD is a progressive disease, which means the symptoms tend to get worse over time.ĪDPKD is the most common type of inherited kidney disease. Most people start developing symptoms between the ages of 30 and 40. He or she will ask about the health of people from several generations of the family, usually first-, second-, and third-degree relatives.Īn autosomal dominant inherited kidney disease characterized by the growth of numerous cysts in the kidneys. A genetics professional can use a person’s family health history (a record of health information about a person’s immediate and extended family) to help determine whether a disorder has a genetic component. It is not always easy to determine whether a condition in a family is inherited. How do you know if a disease is inherited? Conversely, having a child without the condition does not mean that future children will definitely be affected. Having one child with a disorder does not “protect” future children from inheriting the condition. For example, if a couple has a child with an autosomal recessive disorder, the chance of having another child with the disorder is still 25 percent (or 1 in 4). It is important to note that the chance of passing on a genetic condition applies equally to each pregnancy. If a disease that runs in a family does not have a clear-cut inheritance pattern, predicting the likelihood that a person will develop the condition can be particularly difficult. In addition, some people with a disease-causing variant never develop any health problems or may experience only mild symptoms of the disorder. Although the chances of inheriting a genetic condition appear straightforward, factors such as a person's family history and the results of genetic testing can sometimes modify those chances. When a genetic disorder is diagnosed in a family, family members often want to know the likelihood that they or their children will develop the condition.
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