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A novel activating ABCC8 mutation underlying neonatal diabetes mellitus in an infant presenting with cerebral sinovenous thrombosis

  • Ahmet Anık , Gönül Çatlı , Ayhan Abacı , Uluc Yiş , Hale Ören , Handan Güleryüz , Sefa Kızıldağ and Ece Böber EMAIL logo
Published/Copyright: January 27, 2014
Journal of Pediatric Endocrinology and Metabolism
From the journal Journal of Pediatric Endocrinology and Metabolism Volume 27 Issue 5-6

Abstract

Neonatal diabetes mellitus is a rare clinical condition, which develops most commonly secondary to mutations in KCNJ11 and ABCC8 genes encoding ATP-sensitive K+ channels. Patients are typically diagnosed with hyperglycemia-related symptoms in the first 6 months of life and rarely with ketoacidosis. In this article, we report an infant who presented with focal clonic convulsion and thereafter was diagnosed with neonatal diabetes mellitus and thrombi in cerebral venous sinus. In this patient, after a molecular analysis of the ABCC8 gene revealed a novel heterozygous missense mutation (p.D424V), a successful transition from insulin to sulfonylurea treatment was made.

Keywords: ABCC8 gene; cerebral venous sinus thrombosis; neonatal diabetes mellitus
Corresponding author: Ece Böber, MD, Professor, Division of Pediatric Endocrinology, Department of Pediatrics, Faculty of Medicine, Dokuz Eylül University, Balçova-Izmir, 35340 Turkey, Phone: +90 232 4126076, Fax: +90 232 4126001, E-mail:

Acknowledgments

Genetic testing was provided by the Molecular Genetics Laboratory at the University of Exeter Medical School with funding from the Wellcome Trust to Professors Andrew Hattersley and Sian Ellard (http://www.diabetesgenes.org).

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Received: 2013-6-28
Accepted: 2013-11-22
Published Online: 2014-1-27
Published in Print: 2014-5-1

©2014 by Walter de Gruyter Berlin/Boston

Articles in the same Issue

  1. Frontmatter
  2. Original articles
  3. Assessment of hearing in children with type 1 diabetes mellitus
  4. Insulin resistance and lipid profiles in HIV-infected Thai children receiving lopinavir/ritonavir-based highly active antiretroviral therapy
  5. Increased hunger and speed of eating in obese children and adolescents
  6. Glucagon and insulin cord blood levels in very preterm, late preterm and full-term infants
  7. Thyroid function in late preterm infants in relation to mode of delivery and respiratory support
  8. Prevalence of vitamin D deficiency and its related factors in children and adolescents living in North Khorasan, Iran
  9. Asymmetric dimethyl L-arginine, nitric oxide and cardiovascular disease in adolescent type 1 diabetics
  10. A combined nutritional-behavioral-physical activity intervention for the treatment of childhood obesity – a 7-year summary
  11. The effect of earlier puberty on cardiometabolic risk factors in Afro-Caribbean children
  12. Prevalence of risk of deficiency and inadequacy of 25-hydroxyvitamin D in US children: NHANES 2003–2006
  13. Serum uric acid: relationships with biomarkers in adolescents and changes over 1 year
  14. Psychological impact on parents of children with congenital adrenal hyperplasia: a study from Sri Lanka
  15. Investigation of adropin and leptin levels in pediatric obesity-related nonalcoholic fatty liver disease
  16. Diseases accompanying congenital hypothyroidism
  17. Molecular diagnosis of a Chinese pedigree with α-mannosidosis and identification of a novel missense mutation
  18. Are the characteristics of thyroid cancer different in young patients?
  19. Unsaturated fatty acids and insulin resistance in childhood obesity
  20. Effect of genetic subtypes and growth hormone treatment on bone mineral density in Prader-Willi syndrome
  21. KCNJ11 gene mutation analysis on nine Chinese patients with type 1B diabetes diagnosed before 3 years of age
  22. Prevalence and risk factors of metabolic syndrome in school adolescents of northeast China
  23. Patient reports
  24. A novel activating ABCC8 mutation underlying neonatal diabetes mellitus in an infant presenting with cerebral sinovenous thrombosis
  25. Endocrinological anomalies in a patient with 12q14 microdeletion syndrome. Completing phenotype of this exceptional short stature condition
  26. Acute mental status change as the presenting feature of adrenal insufficiency in a patient with autoimmune polyglandular syndrome type II and stroke
  27. Effect of ethosuximide on cortisol metabolism in the treatment of congenital adrenal hyperplasia
  28. Absence of WNT4 gene mutation in a patient with MURCS association
  29. Identification of a novel insulin receptor gene heterozygous mutation in a patient with type A insulin resistance syndrome
  30. Adrenal insufficiency in association with congenital nephrotic syndrome: a case report
  31. Diabetic lipemia presenting as eruptive xanthomas in a child with autoimmune polyglandular syndrome type IIIa
  32. A case report of nephrogenic diabetes insipidus with idiopathic Fanconi syndrome in a child who presented with vitamin D resistant rickets
  33. Letter to the Editor
  34. Hyperbilirubinemia in neonates of diabetic mothers: an indirect biomarker of organ damage?
https://doi.org/10.1515/jpem-2013-0263
Keywords for this article
ABCC8 gene; cerebral venous sinus thrombosis; neonatal diabetes mellitus

Articles in the same Issue

  1. Frontmatter
  2. Original articles
  3. Assessment of hearing in children with type 1 diabetes mellitus
  4. Insulin resistance and lipid profiles in HIV-infected Thai children receiving lopinavir/ritonavir-based highly active antiretroviral therapy
  5. Increased hunger and speed of eating in obese children and adolescents
  6. Glucagon and insulin cord blood levels in very preterm, late preterm and full-term infants
  7. Thyroid function in late preterm infants in relation to mode of delivery and respiratory support
  8. Prevalence of vitamin D deficiency and its related factors in children and adolescents living in North Khorasan, Iran
  9. Asymmetric dimethyl L-arginine, nitric oxide and cardiovascular disease in adolescent type 1 diabetics
  10. A combined nutritional-behavioral-physical activity intervention for the treatment of childhood obesity – a 7-year summary
  11. The effect of earlier puberty on cardiometabolic risk factors in Afro-Caribbean children
  12. Prevalence of risk of deficiency and inadequacy of 25-hydroxyvitamin D in US children: NHANES 2003–2006
  13. Serum uric acid: relationships with biomarkers in adolescents and changes over 1 year
  14. Psychological impact on parents of children with congenital adrenal hyperplasia: a study from Sri Lanka
  15. Investigation of adropin and leptin levels in pediatric obesity-related nonalcoholic fatty liver disease
  16. Diseases accompanying congenital hypothyroidism
  17. Molecular diagnosis of a Chinese pedigree with α-mannosidosis and identification of a novel missense mutation
  18. Are the characteristics of thyroid cancer different in young patients?
  19. Unsaturated fatty acids and insulin resistance in childhood obesity
  20. Effect of genetic subtypes and growth hormone treatment on bone mineral density in Prader-Willi syndrome
  21. KCNJ11 gene mutation analysis on nine Chinese patients with type 1B diabetes diagnosed before 3 years of age
  22. Prevalence and risk factors of metabolic syndrome in school adolescents of northeast China
  23. Patient reports
  24. A novel activating ABCC8 mutation underlying neonatal diabetes mellitus in an infant presenting with cerebral sinovenous thrombosis
  25. Endocrinological anomalies in a patient with 12q14 microdeletion syndrome. Completing phenotype of this exceptional short stature condition
  26. Acute mental status change as the presenting feature of adrenal insufficiency in a patient with autoimmune polyglandular syndrome type II and stroke
  27. Effect of ethosuximide on cortisol metabolism in the treatment of congenital adrenal hyperplasia
  28. Absence of WNT4 gene mutation in a patient with MURCS association
  29. Identification of a novel insulin receptor gene heterozygous mutation in a patient with type A insulin resistance syndrome
  30. Adrenal insufficiency in association with congenital nephrotic syndrome: a case report
  31. Diabetic lipemia presenting as eruptive xanthomas in a child with autoimmune polyglandular syndrome type IIIa
  32. A case report of nephrogenic diabetes insipidus with idiopathic Fanconi syndrome in a child who presented with vitamin D resistant rickets
  33. Letter to the Editor
  34. Hyperbilirubinemia in neonates of diabetic mothers: an indirect biomarker of organ damage?
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