Permanent neonatal diabetes by a new mutation in KCNJ11: unsuccessful switch to sulfonylurea
Arch. endocrinol. metab. (Online)
; 59(6): 559-561, Dec. 2015.
Artigo
em Inglês
| LILACS
| ID: lil-767926
Biblioteca responsável:
BR1.1
ABSTRACT
Permanent neonatal diabetes (PNDM) can result from activating heterozygous mutations in KCNJ11 gene, encoding the Kir6.2 subunit of the pancreatic ATP-sensitive potassium channels (KATP). Sulfonylureas promote KATP closure and stimulate insulin secretion, being an alternative therapy in PNDM, instead of insulin. Male, 20 years old, diagnosed with diabetes at 3 months of age. The genetic study identified a novel heterozygous mutation in exon 1 of the KCNJ11 gene – KCNJ11c1001G>7 (p.Gly334Val) – and confirmed the diagnosis of PNDM. Therefore it was attempted to switch from insulin therapy to sulfonylurea. During glibenclamide institution C-peptide levels increased, however the suboptimal glycemic control lead us to restart an intensive insulin scheme. This new variant of KCNJ11 mutation had a phenotypic lack of response to sulfonylurea therapy. Age, prior poor metabolic control and functional change of KATP channel induced by this specific mutation may explain the observed unsuccessful switch to sulfonylurea. Interestingly, C-peptide levels raise during glibenclamide administration support some degree of improvement in insulin secretory capacity induced by the treatment. Understanding the response to sulfonylurea is crucial as successful treatment may be life-changing in these patients.
Texto completo:
Disponível
Coleções:
Bases de dados internacionais
Base de dados:
LILACS
Assunto principal:
Compostos de Sulfonilureia
/
Glibureto
/
Canais de Potássio Corretores do Fluxo de Internalização
/
Diabetes Mellitus
/
Substituição de Medicamentos
/
Hipoglicemiantes
/
Mutação
Tipo de estudo:
Estudo prognóstico
Limite:
Humanos
/
Masculino
Idioma:
Inglês
Revista:
Arch. endocrinol. metab. (Online)
Assunto da revista:
Endocrinologia
/
Metabolismo
Ano de publicação:
2015
Tipo de documento:
Artigo
País de afiliação:
Portugal
Instituição/País de afiliação:
Universidade do Porto/PT