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    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.