Alkaptonuria (patient information): Difference between revisions
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==What is Alkaptonuria?== | ==What is Alkaptonuria?== | ||
Alkaptonuria is a rare condition in which a person's urine turns a dark brownish-black color when exposed to air. | [[Alkaptonuria]] is a rare condition in which a person's urine turns a dark brownish-black color when exposed to air. | ||
==What are the symptoms of Alkaptonuria?== | ==What are the symptoms of Alkaptonuria?== | ||
Urine in an infant's diaper may darken and can turn almost black after several hours. However, many persons with this condition may not know they have it until mid-adulthood (around age 40), when joint and other problems occur. | Urine in an infant's diaper may darken and can turn almost black after several hours. However, many persons with this condition may not know they have it until mid-adulthood (around age 40), when [[joint]] and other problems occur. | ||
Symptoms may include: | Symptoms may include: | ||
* Arthritis (especially of the spine) that gets worse over time | * [[Arthritis]] (especially of the spine) that gets worse over time | ||
* Darkening of the ear | * Darkening of the [[ear]] | ||
* Dark spots on the white of the eye (sclera) and cornea | * Dark spots on the white of the eye ([[sclera]]) and [[cornea]] | ||
==How to know you have Alkaptonuria?== | ==How to know you have Alkaptonuria?== | ||
A urine test (urinalysis) is done to test for alkaptonuria. If ferric chloride is added to the urine, it will turn the urine a black color in patients with this condition. | A urine test ([[urinalysis]]) is done to test for [[alkaptonuria]]. If ferric chloride is added to the urine, it will turn the urine a black color in patients with this condition. | ||
==When to seek urgent medical care== | ==When to seek urgent medical care== | ||
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==Treatment options== | ==Treatment options== | ||
Some patients benefit from high-dose vitamin C. This has been shown to decrease the build-up of brown pigment in the cartilage and may slow the development of arthritis. | Some patients benefit from high-dose [[vitamin C]]. This has been shown to decrease the build-up of brown pigment in the cartilage and may slow the development of [[arthritis]]. | ||
==Diseases with similar symptoms== | ==Diseases with similar symptoms== | ||
* Ankylosing Spondylitis<ref name="wrongdiagnosis">http://www.wrongdiagnosis.com/a/alkaptonuria/misdiag.htm</ref> | * [[Ankylosing Spondylitis]]<ref name="wrongdiagnosis">http://www.wrongdiagnosis.com/a/alkaptonuria/misdiag.htm</ref> | ||
* Acute intermittent porphyria<ref name="wrongdiagnosis"/> | * Acute intermittent [[porphyria]]<ref name="wrongdiagnosis"/> | ||
==Where to find medical care for Alkaptonuria== | ==Where to find medical care for Alkaptonuria== | ||
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==What to expect (Outlook/Prognosis)== | ==What to expect (Outlook/Prognosis)== | ||
The outcome for people affected with alkaptonuria is generally expected to be good. Some possible complications include people with this condition also can get arthritis in adulthood. The build-up of homogentisic acid in the cartilage causes arthritis in about 50% of older adults with alkaptonuria. | The outcome for people affected with alkaptonuria is generally expected to be good. Some possible complications include people with this condition also can get [[arthritis]] in adulthood. The build-up of [[homogentisic acid]] in the [[cartilage]] causes arthritis in about 50% of older adults with alkaptonuria. | ||
* Homogentisic acid also can build up on the heart valves, especially the mitral valve. This can sometimes lead to the need for valve replacement. | * [[Homogentisic acid]] also can build up on the heart valves, especially the mitral valve. This can sometimes lead to the need for valve replacement. | ||
* Coronary artery disease may develop earlier in people with alkaptonuria. | * Coronary artery disease may develop earlier in people with alkaptonuria. | ||
* Kidney stones and prostate stones may be more common in people with alkaptonuria. | * [[Kidney stones]] and [[prostate stones]] may be more common in people with alkaptonuria. | ||
==Sources== | ==Sources== | ||
Revision as of 19:57, 6 April 2010
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What is Alkaptonuria?
Alkaptonuria is a rare condition in which a person's urine turns a dark brownish-black color when exposed to air.
What are the symptoms of Alkaptonuria?
Urine in an infant's diaper may darken and can turn almost black after several hours. However, many persons with this condition may not know they have it until mid-adulthood (around age 40), when joint and other problems occur.
Symptoms may include:
- Arthritis (especially of the spine) that gets worse over time
- Darkening of the ear
- Dark spots on the white of the eye (sclera) and cornea
How to know you have Alkaptonuria?
A urine test (urinalysis) is done to test for alkaptonuria. If ferric chloride is added to the urine, it will turn the urine a black color in patients with this condition.
When to seek urgent medical care
Call your health care provider if you notice that your own urine or your child's urine becomes dark brown or black when it is exposed to air.
Treatment options
Some patients benefit from high-dose vitamin C. This has been shown to decrease the build-up of brown pigment in the cartilage and may slow the development of arthritis.
Diseases with similar symptoms
- Ankylosing Spondylitis[1]
- Acute intermittent porphyria[1]
Where to find medical care for Alkaptonuria
Directions to Hospitals Treating Alkaptonuria
Prevention of Alkaptonuria
There is no know prevention of alkaptonuria.
What to expect (Outlook/Prognosis)
The outcome for people affected with alkaptonuria is generally expected to be good. Some possible complications include people with this condition also can get arthritis in adulthood. The build-up of homogentisic acid in the cartilage causes arthritis in about 50% of older adults with alkaptonuria.
- Homogentisic acid also can build up on the heart valves, especially the mitral valve. This can sometimes lead to the need for valve replacement.
- Coronary artery disease may develop earlier in people with alkaptonuria.
- Kidney stones and prostate stones may be more common in people with alkaptonuria.