Fabry disease is caused by the lack of or faulty enzyme needed to metabolize
lipids, fat-like substances that include oils, waxes, and fatty acids. The
enzyme is known as ceramide trihexosidase, also called alpha-galactosidase-A. A
mutation in the gene that controls this enzyme causes insufficient breakdown of
lipids, which build up to harmful levels in the eyes, kidneys, autonomic nervous
system, and cardiovascular system. Since the gene that is altered is carried on
a mother's X chromosome, her sons have a 50 percent chance of inheriting the
disorder and her daughters have a 50 percent chance of being a carrier.
What are the symptoms of Fabry disease?
Some
women who carry the genetic mutation may have symptoms of the disease. Symptoms
usually begin during childhood or adolescence and include:
burning sensations in
the hands that gets worse with exercise and hot weather, and
small, raised
reddish-purple blemishes on the skin.
Some boys will also have eye
manifestations, especially cloudiness of the cornea.
Lipid storage may lead
to impaired arterial circulation and increased risk of heart attack or stroke.
The heart may also become enlarged and the kidneys may become progressively
involved.
Kidney failure can occur from an acute event or a chronic condition or disease. Prerenal kidney failure is caused by blood loss, dehydration, medication. Some of the renal causes of kidney failure are from sepsis, medications, rhabdomyolysis, multiple myeloma, and acute glomerulonephritis. Post renal causes of kidney failure include bladder obstruction, prostate problems, tumors, or kidney stones. Treatment options included diet, medications, or dialysis.
High blood pressure, also known as hypertension, is a repeatedly
elevated blood pressure exceeding 140 over 90 mmHg -- a systolic pressure above
140 with a diastolic pressure above 90. There are two causes of high blood pressure, primary and secondary. Primary high blood pressure is much more common that secondary and its basic causes or underlying defects are not always known. It is known that a diet high in salt increases the risk for high blood pressure, as well as high cholesterol. Genetic factors are also a primary cause. Secondary high blood pressure is generally caused by another condition such as renal hypertension, tumors, and other conditions. Treatment for high blood pressure is generally lifestyle changes and if necessary, diet.
A stroke results from impaired oxygen delivery to brain cells via the bloodstream. A stroke is also referred to as a CVA, or cerebrovascular incident. Symptoms of stroke include: sudden numbness or weakness of the face, arm or leg. Sudden confusion, trouble speaking or understanding. Sudden trouble seeing in one or both eyes, sudden trouble walking, dizziness, or loss of balance, and/or sudden severe headache with no known cause. A TIA, or transient ischemic attack is a short-lived temporary impairment of the brain caused by loss of blood supply. Stroke is a medical emergency.
Heart attack happens when a blood clot completely obstructs a coronary
artery supplying blood to the heart muscle. A heart attack can cause chest pain, heart failure, and electrical
instability of the heart.
Heart disease (coronary artery disease) is caused by a buildup of cholesterol deposits in the coronary arteries. Risk factors for heart disease include smoking, high blood pressure, heredity, diabetes, peripheral artery disease, and obesity. Symptoms include chest pain and shortness of breath. There are a variety of tests used to diagnose coronary artery disease. Treatment includes life-style changes, medications, procedures, or surgery.
Genetic disease is a disorder or condition caused by abnormalities in a person's genome. Types of genetic inheritance include single inheritance (for example, cystic fibrosis, sickle cell anemia, Marfan syndrome, and hemochromatosis), multifactoral inheritance, chromosome abnormalities (for example, Turner syndrome, and Klinefelter syndrome), and mitochondrial inheritance (for example, epilepsy and dementia).
Your health care provider may refer you to a genetic professional. Universities and medical centers also often have affiliated genetic professionals, or can provide referrals to a genetic professional or genetics clinic. Genetic counseling provides patients and family members the tools to make the right choice in regard to test for a disease or condition.
The kidneys are responsible for filtering waste products
from the blood. Dialysis is a
procedure that is a substitute for many of the normal duties of the kidneys. The
kidneys are two organs located on either side of the back of the abdominal
cavity. Dialysis can allow
individuals to live productive and useful lives, even though their
kidneys no longer work adequately. In the United States, there are
over 200,000 people who use dialysis techniques on an ongoing
basis.
Dialysis helps the body by performing the functions of failed
kidneys. The kidney has many roles.
An essential job of the kidney is to regulate the body's fluid balance. It does this by adjusting
the amount of urine that is excreted
on a daily basis. On hot days, the body sweats more. Thus, less water needs to
be excreted through the kidneys. On cold days, the body sweats less. Thus, urine output
needs to be greater in order to maintain the proper b...
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