Successful transition to sulfonylurea therapy in two Iraqi siblings with neonatal diabetes mellitus and iDEND syndrome due to ABCC8 mutation
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Elif Ozsu
Abstract
Neonatal diabetes is a rare form of monogenic diabetes characterised by persistent hyperglycaemia during the first 6–9 months of age. About half of the cases of neonatal diabetes are transient forms resulting from mutations in the genes in the imprinted region of chromosome 6q24 and the other half are permanent forms. Activating mutations in the potassium ATP (KATP) channels encoded by the genes KCNJ11 and ABCC8 are responsible for the majority of permanent neonatal diabetes mellitus (PNDM). Mutations in KATP channels can be associated with Developmental delay, Epilepsy and Neonatal Diabetes (DEND) syndrome. Intermediate DEND (iDEND) syndrome is a rare mild form of DEND syndrome. Successful transition from insulin to sulphonyl urea (SU) agents in patients with PNDM due to KCNJ11 mutations and in patients with intermediate DEND syndrome due to KCNJ11 mutation have been reported in the literature. To our knowledge, the successful transition of PNDM with DEND due to ABCC8 mutation has only been reported only once before in the literature. We report the successful transition from insulin to SU in two Iraqi siblings with PNDM due to ABCC8 mutation, one with iDEND.
Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.
Research funding: None declared.
Employment or leadership: None declared.
Honorarium: None declared.
Competing interests: The funding organisation(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.
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©2016 Walter de Gruyter GmbH, Berlin/Boston
Artikel in diesem Heft
- Frontmatter
- Editorial
- Non-alcoholic fatty liver disease in children and adolescents
- Original Articles
- Serum vascular endothelial cadherin and thrombomodulin are markers of non-alcoholic fatty liver disease in children
- Ferritin level is associated with metabolic syndrome and elevated alanine aminotransferase in children and adolescents
- Dietary fructose intake in obese children and adolescents: relation to procollagen type III N-terminal peptide (P3NP) and non-alcoholic fatty liver disease
- Central diabetes insipidus: clinical profile that suggests organicity in Peruvian children: Lima – Peru 2001–2013
- Salivary flow rate, buffer capacity, and urea concentration in adolescents with type 1 diabetes mellitus
- Cortisol response to adrenocorticotropin testing in non-classical congenital adrenal hyperplasia (NCCAH)
- Efficacy of micellized vs. fat-soluble vitamin D3 supplementation in healthy school children from Northern India
- Growth curves for congenital adrenal hyperplasia from a national retrospective cohort
- The effects of type 1 diabetes mellitus on cardiac functions in children: evaluation by conventional and tissue Doppler echocardiography
- The association between single nucleotide polymorphisms of the Apelin gene and diabetes mellitus in a Chinese population
- Case Reports
- Successful transition to sulfonylurea therapy in two Iraqi siblings with neonatal diabetes mellitus and iDEND syndrome due to ABCC8 mutation
- A case of 46,XX dysgenesis and marked tall stature; the need for caution in interpreting array comparative genomic hybridization (CGH)
- Successful treatment of a child with a prolactin secreting macroadenoma with temozolomide
- Acknowledgment
- Acknowledgment
Artikel in diesem Heft
- Frontmatter
- Editorial
- Non-alcoholic fatty liver disease in children and adolescents
- Original Articles
- Serum vascular endothelial cadherin and thrombomodulin are markers of non-alcoholic fatty liver disease in children
- Ferritin level is associated with metabolic syndrome and elevated alanine aminotransferase in children and adolescents
- Dietary fructose intake in obese children and adolescents: relation to procollagen type III N-terminal peptide (P3NP) and non-alcoholic fatty liver disease
- Central diabetes insipidus: clinical profile that suggests organicity in Peruvian children: Lima – Peru 2001–2013
- Salivary flow rate, buffer capacity, and urea concentration in adolescents with type 1 diabetes mellitus
- Cortisol response to adrenocorticotropin testing in non-classical congenital adrenal hyperplasia (NCCAH)
- Efficacy of micellized vs. fat-soluble vitamin D3 supplementation in healthy school children from Northern India
- Growth curves for congenital adrenal hyperplasia from a national retrospective cohort
- The effects of type 1 diabetes mellitus on cardiac functions in children: evaluation by conventional and tissue Doppler echocardiography
- The association between single nucleotide polymorphisms of the Apelin gene and diabetes mellitus in a Chinese population
- Case Reports
- Successful transition to sulfonylurea therapy in two Iraqi siblings with neonatal diabetes mellitus and iDEND syndrome due to ABCC8 mutation
- A case of 46,XX dysgenesis and marked tall stature; the need for caution in interpreting array comparative genomic hybridization (CGH)
- Successful treatment of a child with a prolactin secreting macroadenoma with temozolomide
- Acknowledgment
- Acknowledgment
