Arquivos Brasileiros de Endocrinologia & Metabologia
versión impresa ISSN 0004-2730
VENDRAMINI, Marcio F.; GURGEL, Lucimary C. y MOISES, Regina S.. Long-term response to sulfonylurea in a patient with diabetes due to mutation in the KCNJ11 gene. Arq Bras Endocrinol Metab [online]. 2010, vol.54, n.8, pp. 682-684. ISSN 0004-2730. http://dx.doi.org/10.1590/S0004-27302010000800003.
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.
Palabras clave : Neonatal diabetes; KCNJ11 mutation; sulfonylurea therapy.