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Molecular Medicine And Diabetes

gh she still had the normal number of insulin-producing cells

Drugs of the sulfonylurea class, developed decades ago to enhance insulin secretion in patients with type 2 diabetes--usually seen in adults--can close this ATP-dependent potassium channel.

A study by Hattersley and colleagues, published August 3, 2006, in the New England Journal of Medicine, showed that in 90 percent of patients with neonatal diabetes caused by mutations in one part of the potassium channel, high doses of sulfonylurea could restore normal insulin secretion. The only side effect was mild, short-term diarrhea in about ten percent of patients.

A second study, published in the same journal by a group from France and Houston, found that five out of nine patients with a mutation in a second gene that affects the same potassium channel could also be successfully treated with a sulfonylurea drug, allowing those patients to stop their insulin injections.

In short: Lilly's mutation prevents the cells that make it from secreting insulin. The sulfonylurea drugs correct that defect, and in Lilly's case empower her own cells to do what they are supposed to do.

Precise genetic diagnosis and targeted medication doesn't cure the disease but it vastly simplifies disease management and improves long-term prognosis. Patients still need to monitor blood glucose, although much less often. Instead of frequent insulin injections, they take pills twice a day.

"As long as they take their pills, it's like trading a severe case of type 1 diabetes for mild case of type 2," said Philipson, "a trade anyone would make. It's comparable to swapping influenza for the sniffles."

Lilly's journey began at a routine check-up one month after birth. A standard test showed glucose in her urine. Follow-up blood tests indicated diabetes.

"In a single day we plummeted from the joy of a new baby to the heartbreak and challenge of a new ba
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