18 November 2010
Chennai, India
After doctors diagnosed 13–yearold Shobana (name changed) with type–2 diabetes, they did not know why the medicines they gave her weren’t working.
"When she came to me, her sugar levels were high. She had been given the medicine Metformin and was put on a stringent diet and exercise regime. Her prescription was based on the assumption that she had developed the disorder from her mother and due to rapid changing lifestyle," said Dr V Mohan, chief of Dr Mohan’s Diabetes Specialities Centre.
The hospital subjected her to genetic tests. "We found out that her disorder had nothing to do with lifestyle. Her father wasn’t a diabetic. She was not obese. And unlike other diabetics, she had mutation of just one gene," he said. The doctor replaced Metformin with another class of drugs called Sulfonylurea. Shobana is now healthy and back in school.
During the screening, doctors told her parents that Shobana, who was being treated for early onset of type–2 diabetes, actually had another disorder called MODY. Doctors screened her twin, Kanchana (name changed), and discovered that she too had the disorder.
"We then found that more than three generations of our family had this gene mutated. All of us had diabetes. All of us thought it had something to do with our lifestyle. Now, we know we have MODY–3. Our prescriptions are revised and our sugar levels are under control," said their mother, Sangeetha (name changed).
Increasingly, doctors are insisting diagnosis of the cause for the disorder in young diabetics. "It’s important because these are two different conditions requiring different treatments" said Dr Mohan. While Metformin helps the body solve the problem of insulin resistance, Sulfonylurea helps beta cells release insulin.
Delhi–based diabetologist Dr Anoop Misra added: "Each gene lends a distinct flavour to the course of the disease and may require specific treatment." However, in MODY, there are at least six known genetic mutations. "It is important to distinguish between MODY and type–2 diabetes, but once MODY is established, genetic screening might not be required for every patient, since it will be a costly affair," he said.
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