Improved diabetic control during oral sulfonylurea treatment in two children with permanent neonatal diabetes mellitus.

Full Abstract

Permanent neonatal diabetes mellitus (PND), defined as diabetes diagnosed in the first 6 months of age and requiring life-long insulin therapy, is a rare disorder of unknown etiology. Activating mutations of the KCNJ11 gene, which encodes the Kir6.2 subunit of the ATP-dependent potassium channel in beta-cells, have been found to cause 30-58% of cases of PND. Sulfonylurea treatment in theses patients reduces or eliminates the need for exogenous insulin. We report two Taiwanese boys who were diagnosed with PND at 1 and 4.5 months of age. They had been treated with exogenous insulin for 6 and 15 years, respectively. In September 2006, they were both found to have a KCNJ11 mutation (valine-to-methionine at codon 59; V59M). Glibenclamide successfully increased the basal C-peptide level, lowered HbA(1c), and reduced blood sugar excursions. In one patient, the insulin dose was reduced to 0.2 U/kg/day, and the other was able to discontinue insulin altogether. These two cases from Taiwan add to the experience with similar mutations reported in Caucasians.

Author information

Author/s: Ting, Wei-Hsin (WH); Huang, Chi-Yu (CY); Lo, Fu-Sung (FS); Lee, Hung-Chang (HC); Lin, Chong-Ling (CL); Guo, Wen-Ling (WL); Lee, Yann-Jinn (YJ);

Journal and publication information

Publication Type: Case Reports; Letter; Research Support, Non-U.S. Gov't

Journal: Journal of pediatric endocrinology & metabolism : JPEM (J Pediatr Endocrinol Metab), published in England. (Language: eng)

Reference: 2009-Jul; vol 22 (issue 7) : pp 661-7

Dates: Created 2009/09/24; Completed 2009/10/27;

PMID: 19774848, status: MEDLINE (last retrieved date: 10/27/2009)

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MeSH headings (categories)

This article was linked to the MeSH Headings (categories) shown below.

Adolescent
Blood Glucose - drug effects
C-Peptide - blood; drug effects
Child
DNA Mutational Analysis
Diabetes Mellitus, Type 1 - drug therapy; genetics; physiopathology
Drug Therapy, Combination
Fasting
Glyburide - therapeutic use

Glyburide - therapeutic use
Hemoglobin A, Glycosylated - analysis; drug effects
Humans
Hypoglycemic Agents - therapeutic use
Insulin - therapeutic use
Male
Point Mutation
Potassium Channels, Inwardly Rectifying - genetics
Treatment Outcome

Note: Bold headings indicate primary MeSH headings or qualifiers.

Associated Chemicals: Blood Glucose (0) ; C-Peptide (0) ; Hemoglobin A, Glycosylated (0) ; Hypoglycemic Agents (0) ; Kir6.2 channel (0) ; Potassium Channels, Inwardly Rectifying (0) ; hemoglobin A1c protein, human (0) ; Glyburide (10238-21-8) ; Insulin (11061-68-0)

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