Diabetes Genes

Sulphonylurea Transfer In Patients With KCNJ11 And ABCC8 Mutations – PNDM


Most people (>90%) with permanent neonatal diabetes caused by a KCNJ11 or ABCC8 genetic change can stop insulin and achieve better glucose control with sulphonylurea tablets. 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 (testing how high the blood glucose is) 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.

The Exeter team discovered that genetic changes in KCNJ11 and ABCC8 cause permanent neonatal diabetes and did the major studies on sulphonylurea treatment in patients with potassium channel diabetes.  This information about treating this rare condition is based on our experience since 2004 with more than 800 patients worldwide.


PNDM transfer protocol


For further information or support please contact Professor Andrew Hattersley a.t.hattersley@exeter.ac.uk or Dr Maggie Shepherd on 01392 408261 or m.shepherd1@nhs.net


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Estevez P, Boscolo O, Quiroga E, Fernandez Penuto R, Buontempo F, Tripodi V, Lucangioli S. Development and stability study of glibenclamide oral liquid paediatric formulations for the treatment of permanent neonatal diabetes mellitus. Eur J Hosp Pharm. 2016 Jul;23(4):213-218. doi: 10.1136/ejhpharm-2015-000763. Epub 2015 Dec 16. PMID: 31156851; PMCID: PMC6451472.