Journal
ARQUIVOS BRASILEIROS DE ENDOCRINOLOGIA E METABOLOGIA
Volume 52, Issue 8, Pages 1350-1355Publisher
SBEM-SOC BRASIL ENDOCRINOLOGIA & METABOLOGIA
DOI: 10.1590/S0004-27302008000800024
Keywords
Neonatal diabetes mellitus; KATP channels; KCNJ11; C166Y mutation; Glibenclamide; Treatment failure
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- Wellcome Trust Funding Source: Medline
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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. (Arq Bras Endocrinol Metab 2008; 52/8:1350-1355)
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