Tóm tắt

Background: Neonatal diabetes mellitus (NDM) is defined as hyperglycemia diagnosed within the first 6 months of life and can result from mutations in at least 23 different genes. The most common genetic cause is activating mutations in the KCNJ11 and ABCC8 genes which encode the subunits of the beta-cell KATP channel. In these patients failure of the channel to close in response to increased intracellular ATP results in impaired insulin secretion. Sulfonylureas are an effective treatment for the majority of patients with this genetic subtype as the drug binds to and closes the KATP channel by an ATP-independent route. Patients and method: We identified 20 patients with NDM resulting from ABCC8 or KCNJ11 mutations who were treated at the Vietnam National Hospital of Pediatrics. We assessed the outcome of oral sulfonylurea therapy in all patients for whom transfer was attempted and compared the
clinical characteristics of those with ABCC8 and KCNJ11 mutations. Results: Nineteen patients successfully transferred from insulin to sulfonylurea therapy. In the remaining case remission of the diabetes occurred prior to transfer. Glycated hemoglobin levels improved in all patients who switched to sulfonylurea therapy. HbA1c decreased from 8.0 ±2.2% when treated with insulin to 5.9 ±1.1% when treated with SU, blood sugar fluctuation was also less when on SU treatment compared to insulin treatment (from 3-17 mmol/l on insulin to 4-10 mmol/l on SU). Conclusions: This is the first case series of KATP channel NDM reported from Vietnam. Sulfonylurea therapy is safe in the short term for patients with diabetes caused by KCNJ11 or ABCC8 mutations and is more effective than insulin therapy consistent with all the studies reported to date.