|
|
|
Causes, incidence, and risk factors:
|
|
Alström syndrome is inherited in an autosomal recessive manner. This means both your parents must pass on a copy of the defective gene (ALMSI) in order for you to have this disease.
It is unknown how the defective gene causes the disorder.
The condition is extremely rare. It is more common in Holland and Sweden than in the United States.
|
|
|
Symptoms:
|
- Blindness or severe vision impairment in infancy
- Dark patches of skin (acanthosis nigricans)
- Deafness
- Impaired heart function (cardiomyopathy), which may lead to heart failure
- Obesity
- Progressive kidney failure
- Slowed growth
- Symptoms of childhood-onset or type 2 diabetes
Occasionally, the following can also occur:
|
|
|
Signs and tests:
|
|
An eye doctor (ophthalmologist) will examine the eyes. The patient may have reduced vision.
Tests may be done to check:
|
|
|
Treatment:
|
|
There is no specific treatment for this syndrome. Treatment for symptoms may include:
- Diabetes medication
- Hearing aids
- Heart medications
- Thyroid hormone replacement
|
|
|
|
|
Expectations (prognosis):
|
|
The following are likely to develop:
- Deafness
- Permanent blindness
- Type 2 diabetes
Kidney and liver failure may get worse.
|
|
|
Complications:
|
- Complications from diabetes
- Coronary artery disease (from diabetes and high cholesterol)
- Fatigue and shortness of breath (if poor heart function isn't treated)
|
|
|
Calling your health care provider:
|
|
Call your health care provider if you or your child have symptoms of diabetes such as increased thirst and urination. Seek medical attention promptly if you think that your child cannot see or hear normally.
|
|
|
References:
|
|
Torres VE, Grantham JJ. Cystic diseases of the kidney. In: Taal MW, Chertow GM, Marsden PA, et al, eds. Brenner and Rector's The Kidney. 9th ed. Philadelphia, Pa: Saunders Elsevier; 2011:chap 45.
|
|
