Sulfonylurea Therapy in Two Korean Patients with Insulin-treated Neonatal Diabetes due to Heterozygous Mutations of the KCNJ11 Gene Encoding Kir6.2
Journal of Korean Medical Science
;
: 616-620, 2007.
Artigo
em Inglês
| WPRIM
| ID: wpr-48774
ABSTRACT
Permanent neonatal diabetes (PND) is a rare form of diabetes characterized by insulin-requiring hyperglycemia diagnosed within the first three months of life. In most cases, the causes are not known. Recently, mutations in the KCNJ11 gene encoding the Kir6.2 subunit of the ATP-sensitive K(+) channel have been described in patients with PND. We report the first two Korean cases with PND due to a lysineto- arginine substitution at position 170 (K179R) and a valine-to-methionine substitution at position 59 (V59M) mutations of KCNJ11 encoding Kir6.2, respectively. After several years of insulin therapy, these patients were managed by oral glibenclamide therapy at a daily dose of 0.8-0.9 mg/kg. Their basal c-peptide levels increased after one week of glibenclamide therapy, and one month later, the insulin and c-peptide levels were in the normal ranges without any episodes of hyper- or hypoglycemia. These cases demonstrate that oral sulfonylurea may be the treatment of choice in PND patients with KCNJ11 mutations even at a young age.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Compostos de Sulfonilureia
/
Peptídeo C
/
Hemoglobinas Glicadas
/
Análise Mutacional de DNA
/
Sequência de Bases
/
Resultado do Tratamento
/
Glibureto
/
Canais de Potássio Corretores do Fluxo de Internalização
/
Diabetes Mellitus
/
Heterozigoto
Limite:
Feminino
/
Humanos
/
Lactente
/
Recém-Nascido
País/Região como assunto:
Ásia
Idioma:
Inglês
Revista:
Journal of Korean Medical Science
Ano de publicação:
2007
Tipo de documento:
Artigo
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