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.
Artículo
en Inglés
| 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:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Compuestos de Sulfonilurea
/
Péptido C
/
Hemoglobina Glucada
/
Análisis Mutacional de ADN
/
Secuencia de Bases
/
Resultado del Tratamiento
/
Gliburida
/
Canales de Potasio de Rectificación Interna
/
Diabetes Mellitus
/
Heterocigoto
Límite:
Femenino
/
Humanos
/
Lactante
/
Recién Nacido
País/Región como asunto:
Asia
Idioma:
Inglés
Revista:
Journal of Korean Medical Science
Año:
2007
Tipo del documento:
Artículo
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