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Alport Syndrome is an inherited disease that affects the glomeruli, the tiny blood vessels within the kidneys that filter the blood of its wastes. It was first described by an English doctor, A. Cecil Alport. Because of the way Alport Syndrome is inherited, the disease tends to be more severe in men than in women.
The gene for Alport Syndrome generally is located on the X chromosome, which is one of the chromosomes that determines an individual's sex. The disease is less severe in women because they have two X chromosomes. A normal gene on one of the X chromosomes limits the effects of the Alport gene. Since men only have one X chromosome, there is no normal gene to oppose the effects of the Alport gene, resulting in more severe disease.
About 15-20% of the people who have Alport Syndrome do not have a family history of the disease. In these cases, Alport Syndrome results from new mutations in the gene that is affected in Alport Syndrome. In this case, the affected person is the first member of the family to develop the disease.
Signs & Symptoms
The central feature of the disease is the presence of blood in the urine. Boys with Alport Syndrome develop this symptom in infancy, while girls who carry the Alport gene may or may not have it.
Another important symptom of Alport Syndrome is hearing loss. In boys with the disease, hearing loss is usually detectable by 8-10 years of age, and it may be severe enough to require the use of hearing aids. Hearing loss in girls tends to be much milder, rarely resulting in the need for hearing aids.
Some boys with Alport Syndrome lose large amounts of protein in the urine, resulting in retention of fluid and body swelling. This condition is called "the nephrotic syndrome." With the passage of years, boys with Alport Syndrome develop the typical signs and symptoms of kidney failure - high blood pressure, swelling and, in some cases, impaired growth.
Some people with Alport Syndrome have an eye problem called anterior lenticonus, in which the shape of the lens becomes distorted. This can interfere with the sharpness of vision.
Diagnosis & Tests
Absolute diagnosis of Alport Syndrome can be difficult because its symptoms are similar to those of other kidney diseases, particularly benign familial hematuria (BFH). BFH is another inherited disease that causes many members of a family to have blood in the urine. However, it does not lead to kidney failure.
The diagnosis of Alport Syndrome is done by a careful family history and a kidney biopsy (examination of a small piece of tissue taken from the kidney). Characteristic changes occur in the walls of the capillaries that make up the glomeruli which are seen only in people with Alport Syndrome.
Treatment & Prevention
There is currently no specific therapy for Alport Syndrome. Treatment of the kidney disease consists of controlling high blood pressure and restricting dietary phosphorus. Men with Alport Syndrome eventually require replacement of kidney function with dialysis or kidney transplantation.
Kidney specialists currently are evaluating new approaches designed to preserve kidney function in people with chronic kidney disease. Methods such as dietary protein restriction and the use of a specific blood pressure medication called angiotensin converting enzyme inhibitors (ACE inhibitors) may eventually prove useful in delaying, if not preventing, the development of kidney failure in people with Alport Syndrome.
What is the outlook for Alport Syndrome?
Researchers recently isolated the gene responsible for Alport Syndrome. The research disclosed three mutations of the gene. This discovery not only will permit more precise diagnosis of Alport Syndrome, but it opens the possibility for future gene therapy for this disorder.
Prognosis; Complications
In most cases, Alport Syndrome does not recur in transplanted kidneys, so successful transplantation essentially cures the kidney component of the disease.
Alport Syndrome causes progressive kidney damage. This means that the glomeruli undergo a gradual but persistent process of destruction, leading to kidney failure in many cases. Boys with Alport Syndrome inevitably develop kidney failure, but kidney failure in girls is unusual. The age at which boys with Alport Syndrome develop kidney failure varies from family to family. It may occur as early as 15-20 years of age, but in some families, kidney failure does not develop until the men are 40-50 years of age.
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Conditions that suggest Alport Syndrome: | | | | | Organ Health |  Chronic Renal Insufficiency | Alport Syndrome causes progressive kidney damage. This means that the glomeruli undergo a gradual but persistent process of destruction, leading to kidney failure in many cases. Boys with Alport Syndrome inevitably develop kidney failure, but kidney failure in girls is unusual. The age at which boys with Alport Syndrome develop kidney failure varies from family to family. It may occur as early as 15-20 years of age, but in some families, kidney failure does not develop until the men are 40-50 years of age. |
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Alport Syndrome can lead to: | | | | | Organ Health |  Chronic Renal Insufficiency| | Alport Syndrome causes progressive kidney damage. This means that the glomeruli undergo a gradual but persistent process of destruction, leading to kidney failure in many cases. Boys with Alport Syndrome inevitably develop kidney failure, but kidney failure in girls is unusual. The age at which boys with Alport Syndrome develop kidney failure varies from family to family. It may occur as early as 15-20 years of age, but in some families, kidney failure does not develop until the men are 40-50 years of age. |
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Recommendations and treatments for Alport Syndrome: | | | | | Mineral | Not recommended:
 Phosphorus| | Treatment of the kidney disease consists of controlling high blood pressure and restricting dietary phosphorus. |
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KEY | | Weak or unproven link | | | Proven definite or direct link | | | Reasonably likely to cause problems |
GLOSSARY
AIDS
Acquired Immune Deficiency Syndrome. An immune system deficiency disorder that suddenly alters the body's ability to defend itself. The AIDS virus invades the T4 helper/inducer lymphocytes and multiplies, causing a breakdown in the body's immune system, eventually leading to overwhelming infection and/or cancer, with ultimate death.
Alport Syndrome
Alport syndrome is caused by a mutation in a gene for collagen. This inherited disorder is uncommon, affecting about 2 out of 10,000 people. It causes chronic glomerulonephritis with destruction of the glomeruli (the tiny blood vessels within the kidneys that filter the blood) and eventually progresses to end-stage renal disease at an early age. It was first described by an English doctor, A. Cecil Alport. Because of the way Alport Syndrome is inherited, the disease tends to be more severe in men than in women.
Anterior
In the front or forward part of the organ or toward the head of the body.
Benign
Literally: innocent; not malignant. Often used to refer to cells that are not cancerous; they tend to grow slowly and don't spread (metastasize) like cancer tumors do.
Biopsy
Removal of a sample of tissue from a living being for diagnosis. A pathologist later uses a microscope to look for certain features, such as cancer cells, in the sample. A fine-needle aspiration biopsy involves inserting a thin needle to remove a small amount of tissue, sometimes using CT or ultrasound to guide the needle. A core biopsy involves obtaining a sample of tissue with a thick needle or by inserting a thin, lighted tube (laparoscope) into a small incision in the abdomen. Another biopsy method is to remove tissue during an operation.
Chronic (Chronicity)
Usually referring to chronic illness: Illness extending over a long period of time.
Chronic Renal Failure (Chronic Renal Insufficiency, Kidney Failure, Renal Insufficiency)
(CRF) Irreversible, progressive impaired kidney function. The early stage, when the kidneys no longer function properly but do not yet require dialysis, is known as Chronic Renal Insufficiency (CRI). CRI can be difficult to diagnose, as symptoms are not usually apparent until kidney disease has progressed significantly. Common symptoms include a frequent need to urinate and swelling, as well as possible anemia, fatigue, weakness, headaches and loss of appetite. As the disease progresses, other symptoms such as nausea, vomiting, bad breath and itchy skin may develop as toxic metabolites, normally filtered out of the blood by the kidneys, build up to harmful levels. Over time (up to 10 or 20 years), CRF generally progresses from CRI to End-Stage Renal Disease (ESRD, also known as Kidney Failure). Patients with ESRD no longer have kidney function adequate to sustain life and require dialysis or kidney transplantation. Without proper treatment, ESRD is fatal.
Dialysis
The artificial process of cleaning wastes from the blood when kidneys fail.
Enzymes (Enzyme)
Specific protein catalysts produced by the cells that are crucial in chemical reactions and in building up or synthesizing most compounds in the body. Each enzyme performs a specific function without itself being consumed. For example, the digestive enzyme amylase acts on carbohydrates in foods to break them down.
Glomeruli (Glomerulus)
Tiny tufts of capillaries which carry blood within the kidneys. The blood is filtered by the glomeruli. The blood then continues through the circulatory system, but a certain amount of fluid and specific waste products are filtered out of the blood, to be removed from the body in the form of urine.
Hematuria
Blood in the urine.
Kidneys (Kidney, Renal)
Bean-shaped organs, each about the size of a fist. They are located near the middle of the back, just below the rib cage. The kidneys are sophisticated reprocessing machines, each day handling about 50 gallons of blood to sift out about half a gallon of waste products and extra water. The waste and extra water become urine, which flows to the bladder through tubes called ureters. The actual filtering occurs in tiny units inside the kidneys called nephrons. Every kidney has about a million nephrons. In a nephron, a glomerulus -- which is a tiny blood vessel, or capillary -- intertwines with a tiny urine-collecting tube called a tubule. A complicated chemical exchange takes place, as waste materials and water leave your blood and enter your urinary system. The kidneys recycle chemicals such as sodium, phosphorus, and potassium and thus regulate their levels. Renal: Pertaining to the kidneys.
Phosphorus
The second most abundant mineral in the body, found in every living cell. It is involved in the proper functioning of both muscles and nerves. It is needed for metabolic processes of all cells, to activate many other nutrients, and to form energy-storage and energy-releasing compounds. The phosphorus content of the body is approximately 1% of total body weight. Phosphorus combines with fats to form phospholipids. Combined with calcium, it gives strength and rigidity to the bones and teeth.
Protein (Proteins)
Compounds composed of hydrogen, oxygen, and nitrogen present in the body and in foods that form complex combinations of amino acids. Protein is essential for life and is used for growth and repair. Foods that supply the body with protein include animal products, grains, legumes, and vegetables. Proteins from animal sources contain the essential amino acids. Proteins are changed to amino acids in the body.
Syndrome
A medical condition characterized by a collection of related symptoms (what the patient feels) and signs (what a doctor can observe or measure).
Last updated: Apr 13, 2008
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