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August 22, 2002

Research: Causes and Prevention

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Question from Turkey:

My nephew has had type 1 diabetes since four years of age. He cannot hear without hearing aids, and he cannot see clearly without glasses. My sister and nephew live in Switzerland, and doctors there said that these disorders are connected. Why? My sister is not clear either since they did genetics testing on her and her husband and have found them healthy.

I’m so unhappy since I cannot help her, but I’ll be extremely happy if you can possibly explain the reason for these diseases.

Answer:

From: DTeam Staff

I’m afraid that I cannot be of much help to you because I don’t know enough about your nephew. However, a common association between deafness, blindness and diabetes is congenital rubella (German measles) infection. Other options are very rare genetic syndromes. Genetic testing of your sister and her husband suggests that the doctors are considering such things and you (and they) will have to wait for the results of these tests for more information.

KJR
Additional comments from Dr. David Schwartz:
This child in question (with diabetes, hearing loss and visual problems) may indeed have the conditions connected. Wolfram Syndrome (also called DIDMOAD syndrome for Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, Deafness) is a genetic disorder that is associated with a degree of neurodegeneration. The precise cause is not completely elucidated but has been found to be genetic such that parents would be carriers. A discussion with a clinical geneticist would be very helpful. This disorder can be associated with another hormone imbalance that can lead to increased urination (called Diabetes Insipidus) so if this is indeed the correct diagnosis, it would be prudent to be followed by a pediatric endocrinologist.

IDS