Glibenclamide Unresponsiveness in a Brazilian Child with Permanent Neonatal Diabetes Mellitus and DEND Syndrome Due to a C166Y Mutation in KCNJ11 (Kir6.2) Gene

Thais Della Manna; Claudilene Batristim; Vanessa Radonsky; Roberta D. Savoldelli; Durval Damiani; Fernando Kok; Ewan R. Pearson; Sian Ellard; Andrew T. Hattersley; Andre F. Reis

Glibenclamide Unresponsiveness in a Brazilian Child with Permanent Neonatal Diabetes Mellitus and DEND Syndrome Due to a C166Y Mutation in KCNJ11 (Kir6.2) Gene

Thais Della Manna
, Claudilene Batristim
, Vanessa Radonsky
, Roberta D. Savoldelli
, Durval Damiani
, Fernando Kok
, Ewan R. Pearson
, Sian Ellard
, Andrew T. Hattersley
, Andre F. Reis

Research output: Contribution to journal › Article › peer-review

Abstract

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)

Original language	English
Pages (from-to)	1350-1355
Number of pages	6
Journal	Arquivos Brasileiros de Endocrinologia e Metabologia
Volume	52
Issue number	8
Publication status	Published - Nov 2008

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

SDG 3 Good Health and Well-being

Keywords

Neonatal diabetes mellitus
KATP channels
KCNJ11
C166Y mutation
Glibenclamide
Treatment failure
SULFONYLUREA THERAPY
ACTIVATING MUTATIONS
DEVELOPMENTAL DELAY
NEUROLOGICAL FEATURES
MOLECULAR-BASIS
ENCODES KIR6.2
COMMON-CAUSE
ATP
EPILEPSY
INSULIN

Cite this

Della Manna, T., Batristim, C., Radonsky, V., Savoldelli, R. D., Damiani, D., Kok, F., Pearson, E. R., Ellard, S., Hattersley, A. T., & Reis, A. F. (2008). Glibenclamide Unresponsiveness in a Brazilian Child with Permanent Neonatal Diabetes Mellitus and DEND Syndrome Due to a C166Y Mutation in KCNJ11 (Kir6.2) Gene. Arquivos Brasileiros de Endocrinologia e Metabologia, 52(8), 1350-1355.

@article{33a0789894754c50ba07ecc901166b30,

title = "Glibenclamide Unresponsiveness in a Brazilian Child with Permanent Neonatal Diabetes Mellitus and DEND Syndrome Due to a C166Y Mutation in KCNJ11 (Kir6.2) Gene",

abstract = "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)",

keywords = "Neonatal diabetes mellitus, KATP channels, KCNJ11, C166Y mutation, Glibenclamide, Treatment failure, SULFONYLUREA THERAPY, ACTIVATING MUTATIONS, DEVELOPMENTAL DELAY, NEUROLOGICAL FEATURES, MOLECULAR-BASIS, ENCODES KIR6.2, COMMON-CAUSE, ATP, EPILEPSY, INSULIN",

author = "\{Della Manna\}, Thais and Claudilene Batristim and Vanessa Radonsky and Savoldelli, \{Roberta D.\} and Durval Damiani and Fernando Kok and Pearson, \{Ewan R.\} and Sian Ellard and Hattersley, \{Andrew T.\} and Reis, \{Andre F.\}",

year = "2008",

month = nov,

language = "English",

volume = "52",

pages = "1350--1355",

journal = "Arquivos Brasileiros de Endocrinologia e Metabologia",

issn = "0004-2730",

publisher = "Sociedade Brasileira de Endocrinologia e Metabologia",

number = "8",

}

Della Manna, T, Batristim, C, Radonsky, V, Savoldelli, RD, Damiani, D, Kok, F, Pearson, ER, Ellard, S, Hattersley, AT & Reis, AF 2008, 'Glibenclamide Unresponsiveness in a Brazilian Child with Permanent Neonatal Diabetes Mellitus and DEND Syndrome Due to a C166Y Mutation in KCNJ11 (Kir6.2) Gene', Arquivos Brasileiros de Endocrinologia e Metabologia, vol. 52, no. 8, pp. 1350-1355.

Glibenclamide Unresponsiveness in a Brazilian Child with Permanent Neonatal Diabetes Mellitus and DEND Syndrome Due to a C166Y Mutation in KCNJ11 (Kir6.2) Gene. / Della Manna, Thais; Batristim, Claudilene; Radonsky, Vanessa et al.
In: Arquivos Brasileiros de Endocrinologia e Metabologia, Vol. 52, No. 8, 11.2008, p. 1350-1355.

Research output: Contribution to journal › Article › peer-review

TY - JOUR

T1 - Glibenclamide Unresponsiveness in a Brazilian Child with Permanent Neonatal Diabetes Mellitus and DEND Syndrome Due to a C166Y Mutation in KCNJ11 (Kir6.2) Gene

AU - Della Manna, Thais

AU - Batristim, Claudilene

AU - Radonsky, Vanessa

AU - Savoldelli, Roberta D.

AU - Damiani, Durval

AU - Kok, Fernando

AU - Pearson, Ewan R.

AU - Ellard, Sian

AU - Hattersley, Andrew T.

AU - Reis, Andre F.

PY - 2008/11

Y1 - 2008/11

N2 - 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)

AB - 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)

KW - Neonatal diabetes mellitus

KW - KATP channels

KW - KCNJ11

KW - C166Y mutation

KW - Glibenclamide

KW - Treatment failure

KW - SULFONYLUREA THERAPY

KW - ACTIVATING MUTATIONS

KW - DEVELOPMENTAL DELAY

KW - NEUROLOGICAL FEATURES

KW - MOLECULAR-BASIS

KW - ENCODES KIR6.2

KW - COMMON-CAUSE

KW - ATP

KW - EPILEPSY

KW - INSULIN

M3 - Article

SN - 0004-2730

VL - 52

SP - 1350

EP - 1355

JO - Arquivos Brasileiros de Endocrinologia e Metabologia

JF - Arquivos Brasileiros de Endocrinologia e Metabologia

IS - 8

ER -

Glibenclamide Unresponsiveness in a Brazilian Child with Permanent Neonatal Diabetes Mellitus and DEND Syndrome Due to a C166Y Mutation in KCNJ11 (Kir6.2) Gene

Abstract

UN SDGs

Keywords

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