Disease

Alström syndrome

Definition

Alström syndrome is a very rare disease passed down through families (inherited) that can lead to blindness, deafness, diabetes, and obesity.

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 infancyDark patches of skin (acanthosis nigricans)DeafnessImpaired heart function (cardiomyopathy), which may lead to heart failureObesityProgressive kidney failureSlowed growthSymptoms of childhood-onset or type 2 diabetesOccasionally, the following can also occur:Gastrointestinal refluxHypothyroidismLiver dysfunctionSmall penis

Signs and tests

An eye doctor (ophthalmologist) will examine the eyes. The patient may have reduced vision.Tests may be done to check:Blood sugar levels (to diagnose hyperglycemia)HearingHeart functionThyroid functionTriglyceride levels

Treatment

There is no specific treatment for this syndrome. Treatment for symptoms may include:Diabetes medicationHearing aidsHeart medicationsThyroid hormone replacement

Support Groups

Alström Syndrome International -- www.alstrom.org

Expectations (prognosis)

The following are likely to develop:DeafnessPermanent blindnessType 2 diabetesKidney and liver failure may get worse.

Complications

Complications from diabetesCoronary 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.

Review Date: 8/1/2012
Reviewed By: Neil K. Kaneshiro, MD, MHA, Clinical Assistant Professor of Pediatrics, University of Washington School of Medicine. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M. Health Solutions, Ebix, Inc.
The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. © 1997- 2011 A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.

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