Navegando por Palavras-chave "KCNJ11"

Agora exibindo 1 - 3 de 3
  • Imagem de Miniatura
    Item
    Acesso aberto (Open Access)
    Diabetes mellitus transitório e permanente no primeiro ano de vida: estudo das bases genéticas
    (Universidade Federal de São Paulo (UNIFESP), 2010-09-30) Gurgel, Lucimary Cavalcante [UNIFESP]; Moises, Regina Celia Mello Santiago [UNIFESP]; Universidade Federal de São Paulo (UNIFESP)
  • Imagem de Miniatura
    Item
    Acesso aberto (Open Access)
    Glibenclamide unresponsiveness in a Brazilian child with permanent neonatal diabetes mellitus and DEND syndrome due to a C166Y mutation in KCNJ11 (Kir6.2) gene
    (Sociedade Brasileira de Endocrinologia e Metabologia, 2008-11-01) Della Manna, Thais; Battistim, Claudilene; Radonsky, Vanessa; Savoldelli, Roberta Diaz; Damiani, Durval; Kok, Fernando; Pearson, Ewan R.; Ellard, Sian; Hattersley, Andrew T.; Reis, André Fernandes [UNIFESP]; Universidade de São Paulo (USP); Fleury Medicina e Saúde; Ninewells Hospital & Medical School Biomedical Research Institute; Royal Devon and Exeter Hospital Centre for Molecular Genetics at the Peninsula Medical School Diabetes Research department; Universidade Federal de São Paulo (UNIFESP)
    Heterozygous activating mutations of KCNJ11 (Kir6.2) are the most common cause of permanent neonatal diabetes mellitus (PNDM) and several cases have been successfully treated with oral sulfonylureas. We report on the attempted transfer of insulin therapy to glibenclamide in a 4-year old child with PNDM and DEND syndrome, bearing a C166Y mutation in KCNJ11. An inpatient transition from subcutaneous NPH insulin (0.2 units/kg/d) to oral glibenclamide (1 mg/kg/d and 1.5 mg/kg/d) was performed. Glucose and C-peptide responses stimulated by oral glucose tolerance test (OGTT), hemoglobin A1c levels, the 8-point self-measured blood glucose (SMBG) profile and the frequency of hypoglycemia episodes were analyzed, before and during treatment with glibenclamide. Neither diabetes control nor neurological improvements were observed. We concluded that C166Y mutation was associated with a form of PNDM insensitive to glibenclamide.
  • Nenhuma Miniatura disponível
    Item
    Somente Metadadados
    Hyperinsulinemic hypoglycemia evolving to gestational diabetes and diabetes mellitus in a family carrying the inactivating ABCC8 E1506K mutation
    (Wiley-Blackwell, 2010-11-01) Vieira, Teresa C. [UNIFESP]; Bergamin, Carla S.; Gurgel, Lucimary Cavalcante [UNIFESP]; Moises, Regina Celia Mello Santiago [UNIFESP]; Universidade Federal de São Paulo (UNIFESP)
    Congenital hyperinsulinism of infancy (CHI) is the most common cause of hypoglycemia in newborns and infants. Several molecular mechanisms are involved in the development of CHI, but the most common genetic defects are inactivating mutations of the ABCC8 or KCNJ11 genes. the classical treatment for CHI has been pancreatectomy that eventually leads to diabetes. More recently, conservative treatment has been attempted in some cases, with encouraging results. Whether or not the patients with heterozygous ABCC8 mutations submitted to conservative treatment may spontaneously develop type 2 diabetes in the long run, is a controversial issue. Here, we report a family carrying the dominant heterozygous germ line E1506K mutation in ABCC8 associated with persistent hypoglycemia in the newborn period and diabetes in adulthood. the mutation occurred as a de novo germ line mutation in the mother of the index patient. Her hypoglycemic symptoms as a child occurred after the fourth year of life and were very mild, but she developed glucose metabolism impairment in adulthood. On the other hand, in her daughter, the clinical manifestations of the disease occurred in the neonatal period and were more severe, leading to episodes of tonic-clonic seizures that were well controlled with octreotide or diazoxide. Our data corroborate the hypothesis that the dominant E1506K ABCC8 mutation, responsible for CHI, predisposes to the development of glucose intolerance and diabetes later in life.