|
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
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
Exams 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)
- Hearing
- Heart function
- Thyroid function
- Triglyceride levels
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
Outlook (Prognosis)
The following are likely to develop:
- Deafness
- Permanent blindness
- Type 2 diabetes
Kidney and liver failure may get worse.
Possible Complications
- Complications from diabetes
- Coronary artery disease (from diabetes and high cholesterol)
- Fatigue and shortness of breath (if poor heart function isn't treated)
When to Contact a Medical Professional
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.
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.
