Genetic condition awaiting consideration - Donohue syndrome (leprechaunism)
An affected individual will have inherited 2 abnormal copies of the gene which codes for the insulin receptor - one from each parent, as it is an autosomal recessive condition. The result is an extremely rare form of diabetes mellitus which results from greatly reduced signalling by the insulin receptor.
As treatment with insulin is largely ineffective (it has to signal through the same receptor in order to have an effect) there is very little by way of effective treatment for these patients.
The natural history varies depending on the functional severity of the mutation, but within families, the phenotype is relatively similar.
Such a child may have poorly controlled diabetes from a few months old.
Treatment with high dose insulin can result in cardiomyopathy, as well as nephrocalcinosis and proteinuria.
These are managed using a strict diet as all other therapies are largely ineffective.
This is an autosomal recessive condition so there is a 1 in 4 risk of future pregnancies having the same condition.
Her quality of life is affected by having frequent blood tests, and a very limited diet.
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Page last updated: 16 July 2012