Alport syndrome (patient information): Difference between revisions
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==Overview== | ==Overview== | ||
Alport syndrome is an inherited disorder that damages the tiny blood vessels in the | Alport's syndrome is an inherited disorder that damages the tiny blood vessels in the [[kidney]]s. | ||
==What are the symptoms of Alport's syndrome ?== | ==What are the symptoms of Alport's syndrome ?== | ||
Urinary symptoms include: | Urinary symptoms include: | ||
*Abnormal urine color | *Abnormal [[urine]] color | ||
*Blood in the urine (may be made worse by upper respiratory infections or exercise) | *[[Blood]] in the [[urine]] (may be made worse by upper respiratory infections or [[exercise]]) | ||
*Flank pain | *Flank pain | ||
Eye symptoms include: | Eye symptoms include: | ||
*Decrease or loss of vision | *Decrease or [[loss of vision]] | ||
*Swelling around the eyes | *Swelling around the eyes | ||
Ear symptoms include: | Ear symptoms include: | ||
* | *[[Hearing loss]](more common in males) | ||
Other symptoms: | Other symptoms: | ||
*Swelling all over the body. | *[[Anasarca|Swelling all over the body]]. | ||
==What causes Alport's syndrome ?== | ==What causes Alport's syndrome ?== | ||
Alport syndrome is an inherited form of kidney inflammation (nephritis). It is caused by a mutation in a gene for a protein in the connective tissue, called collagen. | [[Alport's syndrome]] is an inherited form of kidney inflammation ([[nephritis]]). It is caused by a mutation in a gene for a protein in the connective tissue, called [[collagen]]. | ||
The disorder is uncommon. It most often affects males. Women can pass the gene for the disorder to their children, even if they have no symptoms. | The disorder is uncommon. It most often affects males. Women can pass the gene for the disorder to their children, even if they have no symptoms. | ||
Risk factors include: | Risk factors include: | ||
*[[End stage renal disease]] | *[[End stage renal disease]] | ||
*Family history of Alport's syndrome | *Family history of [[Alport's syndrome]] | ||
*Hearing loss before age 30 | *[[Hearing loss]] before age 30 | ||
==Diagnosis== | ==Diagnosis== | ||
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*Surgery to repair [[cataracts]] (cataract extraction) or a bulging of the lens in the eye may be needed. | *Surgery to repair [[cataracts]] (cataract extraction) or a bulging of the lens in the eye may be needed. | ||
*Hearing loss is likely to be permanent. Counseling and education to increase coping skills can be helpful. Learning new skills such as lip reading or sign language and getting hearing aids may help. Young men with [[Alport's syndrome]] should use hearing protection in noisy environments. | *Hearing loss is likely to be permanent. Counseling and education to increase coping skills can be helpful. Learning new skills such as lip reading or sign language and getting hearing aids may help. Young men with [[Alport's syndrome]] should use hearing protection in noisy environments. | ||
*Genetic | *[[Genetic counselling]] may be recommended because the disorder is inherited. | ||
==Prevention of Alport's syndrome== | ==Prevention of Alport's syndrome== | ||
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==What to expect (Outlook/Prognosis) ?== | ==What to expect (Outlook/Prognosis) ?== | ||
Women usually have a normal lifespan with no signs of the disease except for [[blood]] in the [[urine]]. Rarely, women will have high [[blood pressure]], [[swelling]], and nerve deafness as a complication of pregnancy. | Women usually have a normal lifespan with no signs of the disease except for [[blood]] in the [[urine]]. Rarely, women will have high [[blood pressure]], [[swelling]], and nerve deafness as a complication of pregnancy. | ||
In men, deafness, vision problems, and end-stage kidney disease are likely by age 50. | In men, [[deafness]], vision problems, and [[end-stage kidney disease]] are likely by age 50. | ||
==Possible complications== | ==Possible complications== | ||
Revision as of 19:17, 27 July 2012
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Alport's syndrome |
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Alport's syndrome On the Web |
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Aarti Narayan, M.B.B.S [2]
Overview
Alport's syndrome is an inherited disorder that damages the tiny blood vessels in the kidneys.
What are the symptoms of Alport's syndrome ?
Urinary symptoms include:
- Abnormal urine color
- Blood in the urine (may be made worse by upper respiratory infections or exercise)
- Flank pain
Eye symptoms include:
- Decrease or loss of vision
- Swelling around the eyes
Ear symptoms include:
- Hearing loss(more common in males)
Other symptoms:
What causes Alport's syndrome ?
Alport's syndrome is an inherited form of kidney inflammation (nephritis). It is caused by a mutation in a gene for a protein in the connective tissue, called collagen. The disorder is uncommon. It most often affects males. Women can pass the gene for the disorder to their children, even if they have no symptoms. Risk factors include:
- End stage renal disease
- Family history of Alport's syndrome
- Hearing loss before age 30
Diagnosis
Signs include:
- Changes to the eye, including the fundus (back inner part of the eye), cataracts, or bulging of the lens (lenticonus)
- Systemic hypertension
Tests include:
When to contact a Medical professional ?
Call for an appointment with your health care provider if:
- You have symptoms of Alport's syndrome
- You have a family history of Alport's syndrome and planning to have children
- Your urine output decreases or stops or you see blood in the urine (this may be a symptom of chronic kidney disease)
Treatment
- The goals of treatment include monitoring and controlling the disease and treating the symptoms. It is most important to strictly control blood pressure. Angiotensin-converting enzyme inhibitors and angiotensin receptor blockers can control blood pressure and slow the rate at which the disease gets worse.
- You may need to treat chronic kidney disease. This can include changing the diet, limiting fluids, and other treatments. Chronic kidney disease will progress to end stage kidney disease. This will require dialysis or a kidney transplant
- Surgery to repair cataracts (cataract extraction) or a bulging of the lens in the eye may be needed.
- Hearing loss is likely to be permanent. Counseling and education to increase coping skills can be helpful. Learning new skills such as lip reading or sign language and getting hearing aids may help. Young men with Alport's syndrome should use hearing protection in noisy environments.
- Genetic counselling may be recommended because the disorder is inherited.
Prevention of Alport's syndrome
This uncommon disorder is inherited. Awareness of risk factors, such as a family history of the disorder, may allow the condition to be detected early.
What to expect (Outlook/Prognosis) ?
Women usually have a normal lifespan with no signs of the disease except for blood in the urine. Rarely, women will have high blood pressure, swelling, and nerve deafness as a complication of pregnancy. In men, deafness, vision problems, and end-stage kidney disease are likely by age 50.