Journal of The Korean Society of Inherited Metabolic disease (대한유전성대사질환학회지)
- Volume 6 Issue 1
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- Pages.52-57
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- 2006
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- 2287-4712(pISSN)
Sulfonylurea therapy in a patient with insulin treated neonatal diabetes due to mutation in Kir6.2
Kir6.2 유전자변이에 의해 발생한 신생아 당뇨병 1례
- Kim, Min Sun (Department of Pediatrics, Chonbuk National University Medical School) ;
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Lee, Dae Yeol
(Department of Pediatrics, Chonbuk National University Medical School) ;
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Yoo, Han Wook
(Department of Pediatrics, University of Ulsan College of Medicine)
- Published : 2006.07.15
Abstract
Permanent neonatal diabetes(PND) is a rare form of diabetes characterized by insulin-requiring hyperglycemia that is diagnosed within the first 3 months of life. In most cases, the causes are not known. Recently, mutations in the gene KCNJ11 encoding the Kir6.2 subunit of the ATP-sensitive K+ charmel have been described in patients with PND. We report a child with PND due to a lysine-to-arginine substitution at position 170(K170R) of gene encoding Kir6.2 Our patient was diagnosed at 7 weeks of age and had been treated with subcutaneous insulin for 6.5 years. Recently, our patient has been changed from subcutaneous insulin to oral glibenclamide therapy at a daily dose of 7.5 mg 3 times a day(0.9 mg/kg/day) at the age of 6.5 years. Before glibenclamide therapy, c-peptide level was 0.1 ng/ml(normal 1.0-3.5 ng/ml) and hemoglobin HbA1c level was 7.8%(normal <6%). After 6 days of treatment, her c-peptide and insulin levels were 2.3 ng/ml and