From America OnLine:
My 15 year-old son was diagnosed with Wolfram's Syndrome (Diabetes Mellitus and Diabetes Insipidus in the same patient, complicated with other problems as well).
I am looking for information about the disease. I would like to know if any University is doing research on the condition. I haven't read any thing about this for several years now and I'm wondering if any new studies or information is out.
It seems no one has information on this; any links you could provide would be appreciated.
Wolfram Syndrome, or DIDMOAD, is, as you describe, traditionally described as a syndrome comprising diabetes insipidus, a mild form of diabetes mellitus, optic atrophy and deafness. Recent research has been primarily around the natural history and phenotypic variation of the condition and its mode of inheritance. It is now known that the chromosomal abnormality is on the short arm of chromosome 4 and that it is inherited as an autosomal recessive. There is a wide variance in the degree of neurological damage and some complications may ensue from the severe lack of tone in both the urinary and digestive tracts.
Research in recent years has mostly centered around defining the natural history of the condition and its inheritance. There is also some evidence that at least some cases may be associated with a mitochondrial disorder: these are small intracellular particles that play an essential role in respiration.
If you have access to a medical library, you might be helped by reading an article by B. T. Kingley in Diabetes Care, Volume 18, pages 583 and 1566, 1995.
Original posting 23 Mar 97
Last Updated: Tuesday April 06, 2010 15:08:52
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