ArticleKorean journal of pediatrics2015
Successful sulfonylurea treatment in a patient with permanent neonatal diabetes mellitus with a novel KCNJ11 mutation.
Article in Korean journal of pediatrics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 11 citations in OpenAlex.
- Epidemiology and phenotypes of diabetes in children and adolescents in non-European-origin populations in or from Western Pacific region.World journal of clinical pediatrics · 2022Article
- New insights into KNature reviews. Endocrinology · 2020Review
- Successful switching from insulin to sulfonylurea in a 3-month-old infant with diabetes due to p.G53D mutation in KCNJ11.Annals of pediatric endocrinology & metabolism · 2018Article
- DEND Syndrome with Heterozygous KCNJ11 Mutation Successfully Treated with Sulfonylurea.Journal of Korean medical science · 2017Article
- Not All Diabetes in Infants is Type 1: A Case Report.Diabetes therapy : research, treatment and education of diabetes and related disorders · 2016Article
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Authors and funding
3 authors at 2 institutions in 1 country.
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Abstract
Permanent neonatal diabetes mellitus refers to diabetes that occurs before the age of 6 months and persists through life. It is a rare disorder affecting one in 0.2-0.5 million live births. Mutations in the gene KCNJ11, encoding the subunit Kir6.2, and ABCC8, encoding SUR1 of the ATP-sensitive potassium (KATP) channel, are the most common causes of permanent neonatal diabetes mellitus. Sulfonylureas close the KATP channel and increase insulin secretion. KCNJ11 and ABCC8 mutations have important therapeutic implications because sulfonylurea therapy can be effective in treating patients with mutations in the potassium channel subunits. The mutation type, the presence of neurological features, and the duration of diabetes are known to be the major factors affecting the treatment outcome after switching to sulfonylurea therapy. More than 30 mutations in the KCNJ11 gene have been identified. Here, we present our experience with a patient carrying a novel p.H186D heterozygous mutation in the KCNJ11 gene who was successfully treated with oral sulfonylurea.
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