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A new treatment for neonatal diabetes

Learn about some of the improvements a patient can experience after confirmation of a genetic cause.
The optimal treatment for patients with KCNJ11 neonatal diabetes is high doses of sulphonylureas which enable patients to release insulin in response to raised blood glucose levels after a meal. The vast majority (>90%) of patients with neonatal diabetes caused by potassium channel mutations can be successfully treated with sulphonylurea tablets instead of insulin injections, leading to improvements in glycaemic control.

Reduction in Glycated Hemoglobin Levels Associated with Switching from Insulin to Sulfonylurea Therapy Reduction in Glycated Hemoglobin Levels Associated with Switching from Insulin to Sulfonylurea Therapy. From The New England Journal of Medicine, Pearson ER et al, Switching from Insulin to Oral Sulfonylureas in Patients with Diabetes Due to Kir6.2 Mutations, 355:467-477. Copyright © (2006) Massachusetts Medical Society. Reproduced with permission from Massachusetts Medical Society.

As you’ve already heard the KCNJ11 and ABCC8 genetic changes affect the Kir6.2 and SUR1 subunits of the potassium channel which provide the link between the sensing of glucose and the release of insulin from the pancreatic beta cell. Sulphonylureas bind to the channel to enable the pancreatic beta cell to respond by secreting insulin when food is eaten.

So confirming a genetic cause of Jack’s condition also enabled him to transfer from insulin injections to sulphonylurea tablets, leading to improvements in his blood glucose measures. You can find more information about treating this rare condition based on our experience since 2004 with more than 400 patients worldwide on our Diabetes Genes website.

© University of Exeter
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Genomic Medicine: Transforming Patient Care in Diabetes

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