Alport's Health Report
By Allison McClelland
Alport's Syndrome is a genetic dysfunction in the kidney. This syndrome is generally recognized as a common form of the disease Hereditary Nephritis. All the syndromes labeled under Hereditary Nephritis are brought about by a genetic dysfunction in the kidney and cause the kidney to wear and break down over time. There are many hereditary kidney diseases: Fabry Disease, Nail Patella Syndrome, Oxalosis, Hyperoxaluria and polycystic chronic hepatic fibrosis are a few of them.
The kidney is a vital organ in the body that functions in the excretory system. The kidneys filter waste products from the blood and help to keep the body's balance of fluid and minerals. This is how urine is formed. The kidneys work as a filtration system that stops poison and diseases from building up in the blood. The position of the kidneys (one on each side of the backbone, near the back and right beneath the diaphragm,) make them very vulnerable to problems and injuries. Most of the problems, however, are caused by disease. Alport's Syndrome primarily affects the glomerular membrane and makes it thin and weak. Over time, Alport's can result in partial or full loss of kidney function; this is also referred to as acute renal failure.
The symptoms of Alport's are noticeable blood and/or protein (chronic hematuria) in the urine causing the urine to turn orange, bright yellow, or even in some cases, red. In advanced levels of Alport's, uremia, hearing loss, vision problems or blindness may occur. A patient usually develops high blood pressure as the kidney function dissipates and will need to take medication to control the problem. Even with its many problems, the kidney may look pretty regular, although cysts may occur. Other symptoms of kidney problems are nausea, problems digesting food, sleepiness, skin becoming dry and icy, bruising easily, and loss of appetite.
The risks of Alport's Syndrome can vary from person to person and from males to females. Men are more likely to become seriously ill from the syndrome, and it appears that the illness onset follows the pattern of the previously ill male members of the family. For example, if the grandfather has the disease and it begins to cause problems during his twenties, the grandson will also begin to experience problems in his twenties. Females tend to have few, if any problems with this disease, although there have been documented cases that have the same results as their male relations. The males with Alport's can only pass the disease onto his female offspring. Yet, a mother can pass Alport's to either male or female offspring. The chance of the offspring getting Alport's Syndrome is 50% with each pregnancy in a female carrier and 50% in the male carrier who has daughters.
Since there is no cure for Alport's Syndrome, problems created by the disease can not be prevented and the disease will always be present in the kidney. But because of modern technology, the medical profession is able to do many things if kidney failure does occur.
If the kidneys lose 90% of their function, dialysis is begun. This is a temporary process that takes over the job of the failing kidneys. The Alport's patient goes to the hospital 3 times a week for approximately 4 hours each visit. The patient is attached to a dialysis machine that filters all of the blood. Although, medicines through injection are given; the patient is still left vulnerable to almost any disease. Dialysis is only a temporary process until a donor kidney can be found. (There have been cases where people have lived on dialysis for over ten years, but the process usually breaks down the body and life functions cease.)
The major preference is a kidney transplant. This is a permanent solution and the procedure has become much easier for the donor and the recipient with laser technology. Transplants are ideally done before the patient goes into renal failure and before dialysis has been started. During a transplant, a healthy donor kidney, usually the left one, is inserted into the patient's body from a live (family) or cadaver donor. The patient's kidneys are not removed and the donor kidney is placed in front and slightly below the abdomen. Alport's Syndrome will never affect this kidney.
Alport's Syndrome may be only a minor inconvenience in a person's life, or it could become a life threatening experience.
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