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Alström syndrome

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 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:

  • Gastrointestinal reflux
  • Hypothyroidism
  • Liver dysfunction
  • Small penis

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

Support Groups

Alström Syndrome International -- www.alstrom.org

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.

Updated: 8/1/2012

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.


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