Hemorrhagic Familial Nephritis
Nephritis is inflammation that takes place in one or both of your kidneys. Protein that your body needs is excreted by your kidneys into your urine stream as your kidneys start to become inflamed. This condition is known as proteinuria. There are several life-threatening signs and symptoms that can be caused by this loss of necessary protein that results from nephritis.
What is Hemorrhagic familial nephritis?
It is a genetic disease that is marked by hearing loss, glomerulonephritis and end-stage kidney disease. Hemorrhagic familial nephritis may also affect your eyes. Blood being present in your urine (hematuria) is almost always a sign or symptom of this disease.
Blood is filtered across your glomerular basement membrane (GBM) in each one of the one million glomeruli (tiny filtering units) that are located in each one of your kidneys. When you have hemorrhagic familial nephritis, type IV collagen, which is one of the proteins that compose your glomerular basement membrane is either abnormal or absent. Even though your GMB appears normal during childhood, it deteriorates with the passage of time due to the fact that it lacks the special type IV collagen that should be there.
Hemorrhagic familial nephritis is known by several other names. It is also referred to as Alport Syndrome, Hematuria - nephropathy - deafness nephritis, hereditary nephritis and hereditary deafness and nephropathy.
Fortunately, hemorrhagic familial nephritis is rare. It is estimated to affect around 1 in 5,000 people in the United States.
As mentioned above, hemorrhagic familial nephritis is an inherited form of nephritis (kidney inflammation). This disease is caused by a defect (mutation) in the gene that is responsible for one of the proteins in your connective tissue that is named collagen. What this means is that this special type IV collagen is missing when you have hemorrhagic familial nephritis.
The disorder occurs most of the time in men. Women can pass on the defective gene that is responsible for hemorrhagic familial nephritis even when they have no signs or symptoms of the disease.
Signs and symptoms of Hemorrhagic Familial Nephritis
At the beginning, you may not have any signs or symptoms at all with hemorrhagic familial nephritis. However, as time goes by, the effectiveness of your kidney's filtering system is decreased by the progressive destruction of your glomeruli. You begin to have a build-up of wastes and fluids in your body and a progressive loss of your kidney function.
Hemorrhagic familial nephritis is usually mild in women. It may cause little or no signs or symptoms.
However, the signs and symptoms in men are more severe and get worse more rapidly. Some of the possible signs and symptoms may include:
- An abnormal color to your urine
- A loss of hearing, which is more common in men that it is in women
- Hematuria (blood in your urine)
- Proteinuria (protein in your urine)
- A decrease or loss of vision, which is more common in men than it is in women
- Swelling around your eyes
- Generalized swelling
- Swelling in your ankle, feet and leg
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