Alström syndrome is a very rare inherited disease that can lead to blindness, deafness, diabetes, and obesity.
Causes, incidence, and risk factors
Alström syndrome is an autosomal recessive inherited disorder. This means that a person must inherit a copy of the defective gene from both parents to be affected. It is extremely rare, but is more common in Holland and Sweden than in the United States.
The altered gene, ALMS1, has been found. However, it is not yet known how this gene causes the disorder.
- Blindness or severe vision impairment in infancy
- Dark patches of skin (acanthosis nigricans)
- Impaired heart function (cardiomyopathy), which may lead to heart failure
- 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:
There is no specific treatment for this syndrome. Treatment for symptoms may include:
- Diabetes medication
- Hearing aids
- Heart medications
- Thyroid hormone replacement
Alström Syndrome International -- www.alstrom.org
The following are likely to develop:
- Permanent blindness
- Type 2 diabetes
Kidney and liver failure may get worse.
- 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 suspect symptoms of diabetes such as increased thirst and urination. Seek medical attention promptly if you suspect that your infant or child cannot see or hear normally.
Torres VE, Grantham JJ. Cystic diseases of the kidney. In: Brenner BM, ed. Brenner and Rector's The Kidney. 8th ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 41.
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., 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-
A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.