Objective: To report the long-term (30-month) effect of the switch from insulin to sulfonylurea in a patient carrying the p.G53D (c.158G>A) mutation in KCNJ11 gene.
Subject And Method: A 29-year-old male patient was diagnosed with diabetes in the third month of life and after identification of a heterozygous p.G53D mutation in the KCNJ11 gene, the therapy was switched from insulin to sulfonylurea.
Results: Long-term follow-up (30 months) showed that good metabolic control was maintained (HbA1c: 6.6%) and the glibenclamide dose could be reduced.
Conclusion: Long-term therapy with sulfonylureas in patients with neonatal diabetes due to mutation in the KCNJ11 gene is safe and promotes sustained improvement of glycemic control.
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http://dx.doi.org/10.1590/s0004-27302010000800003 | DOI Listing |
Med J Armed Forces India
December 2024
Director & Commandant, Armed Forces Medical College, Pune, India.
Neonatal diabetes mellitus is a rare disorder with prevalence of one in 400,000 live births that's defined by persistent hyperglycaemia within the first six months of life. Neonatal diabetes is heterogeneous and can be transient or permanent. Developmental delay, Epilepsy and Neonatal Diabetes (DEND) syndrome is characterised by developmental delay, epilepsy, and neonatal diabetes.
View Article and Find Full Text PDFDiabetes Metab Syndr Obes
November 2024
Department of Pharmaceutical Technology, Jordan University of Science and Technology, Irbid, Jordan.
J Tradit Complement Med
September 2024
Department of Microbiology, Biochemistry, and Immunology, Cancer Health Equity Institute, Morehouse School of Medicine, Atlanta, GA, USA, 30310.
JCEM Case Rep
September 2024
Department of Pediatrics, Washington University, St Louis, MO 63110, USA.
Hyperinsulinism due to focal or diffuse pancreatic lesions causing recurrent episodes of hypoglycemia is rare in mid-childhood. There is no consensus on the gold-standard imaging method to diagnose focal insulin-producing lesions beyond infancy. A 14-year-old boy with a complex medical history and refractory epilepsy, presented with blood glucose (BG) of 52 mg/dL (2.
View Article and Find Full Text PDFJ Diabetes Investig
October 2024
College of Health and Science, University of Lincoln, Lincoln, UK.
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