Patients with permanent neonatal diabetes usually present within the first three months of life and need insulin treatment. In most, the cause is unknown. Because ATP-sensitive potassium (KATP) channels mediate glucose-stimulated insulin secretion from the pancreatic beta cells, activating mutations in the gene encoding the Kir6.2 subunit of this channel (KCNJ11) cause neonatal diabetes. Genotyping identifies the exact molecular etiology of early onset insulin requiring diabetes and has the potential to alter the management of the patient, who would otherwise be insulin dependent for life. Method: We identified a 6 year-old child who presented at 3 months of age with diabetic ketoacidosis. Blood samples for molecular genetic analysis were done. Results: The patient was diagnosed as a heterozygous for a missense mutation in the (KCNJ11) gene, for which she switched to sulphonylurea with a dose of 0.05 mg/kg/day. Conclusion: the need for medical practitioners to consider molecular testing for all patients who present with diabetes below 6 months of age as this will facilitate accurate diagnosis and appropriate therapy.
Published in | American Journal of Biomedical and Life Sciences (Volume 3, Issue 4) |
DOI | 10.11648/j.ajbls.20150304.13 |
Page(s) | 84-86 |
Creative Commons |
This is an Open Access article, distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution and reproduction in any medium or format, provided the original work is properly cited. |
Copyright |
Copyright © The Author(s), 2015. Published by Science Publishing Group |
Genetic Analysis, Neonatal Diabetes, Sulphonylurea
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APA Style
Eman Ahmad Alsafi, Ihab Abdulhamed Ahmad, Abdulmoein Eid AL-Agha. (2015). Importance of genetic testing in neonatal diabetes and use of sulphonylureaImportance of genetic testing in neonatal diabetes and use of sulphonylurea. American Journal of Biomedical and Life Sciences, 3(4), 84-86. https://doi.org/10.11648/j.ajbls.20150304.13
ACS Style
Eman Ahmad Alsafi; Ihab Abdulhamed Ahmad; Abdulmoein Eid AL-Agha. Importance of genetic testing in neonatal diabetes and use of sulphonylureaImportance of genetic testing in neonatal diabetes and use of sulphonylurea. Am. J. Biomed. Life Sci. 2015, 3(4), 84-86. doi: 10.11648/j.ajbls.20150304.13
AMA Style
Eman Ahmad Alsafi, Ihab Abdulhamed Ahmad, Abdulmoein Eid AL-Agha. Importance of genetic testing in neonatal diabetes and use of sulphonylureaImportance of genetic testing in neonatal diabetes and use of sulphonylurea. Am J Biomed Life Sci. 2015;3(4):84-86. doi: 10.11648/j.ajbls.20150304.13
@article{10.11648/j.ajbls.20150304.13, author = {Eman Ahmad Alsafi and Ihab Abdulhamed Ahmad and Abdulmoein Eid AL-Agha}, title = {Importance of genetic testing in neonatal diabetes and use of sulphonylureaImportance of genetic testing in neonatal diabetes and use of sulphonylurea}, journal = {American Journal of Biomedical and Life Sciences}, volume = {3}, number = {4}, pages = {84-86}, doi = {10.11648/j.ajbls.20150304.13}, url = {https://doi.org/10.11648/j.ajbls.20150304.13}, eprint = {https://article.sciencepublishinggroup.com/pdf/10.11648.j.ajbls.20150304.13}, abstract = {Patients with permanent neonatal diabetes usually present within the first three months of life and need insulin treatment. In most, the cause is unknown. Because ATP-sensitive potassium (KATP) channels mediate glucose-stimulated insulin secretion from the pancreatic beta cells, activating mutations in the gene encoding the Kir6.2 subunit of this channel (KCNJ11) cause neonatal diabetes. Genotyping identifies the exact molecular etiology of early onset insulin requiring diabetes and has the potential to alter the management of the patient, who would otherwise be insulin dependent for life. Method: We identified a 6 year-old child who presented at 3 months of age with diabetic ketoacidosis. Blood samples for molecular genetic analysis were done. Results: The patient was diagnosed as a heterozygous for a missense mutation in the (KCNJ11) gene, for which she switched to sulphonylurea with a dose of 0.05 mg/kg/day. Conclusion: the need for medical practitioners to consider molecular testing for all patients who present with diabetes below 6 months of age as this will facilitate accurate diagnosis and appropriate therapy.}, year = {2015} }
TY - JOUR T1 - Importance of genetic testing in neonatal diabetes and use of sulphonylureaImportance of genetic testing in neonatal diabetes and use of sulphonylurea AU - Eman Ahmad Alsafi AU - Ihab Abdulhamed Ahmad AU - Abdulmoein Eid AL-Agha Y1 - 2015/07/09 PY - 2015 N1 - https://doi.org/10.11648/j.ajbls.20150304.13 DO - 10.11648/j.ajbls.20150304.13 T2 - American Journal of Biomedical and Life Sciences JF - American Journal of Biomedical and Life Sciences JO - American Journal of Biomedical and Life Sciences SP - 84 EP - 86 PB - Science Publishing Group SN - 2330-880X UR - https://doi.org/10.11648/j.ajbls.20150304.13 AB - Patients with permanent neonatal diabetes usually present within the first three months of life and need insulin treatment. In most, the cause is unknown. Because ATP-sensitive potassium (KATP) channels mediate glucose-stimulated insulin secretion from the pancreatic beta cells, activating mutations in the gene encoding the Kir6.2 subunit of this channel (KCNJ11) cause neonatal diabetes. Genotyping identifies the exact molecular etiology of early onset insulin requiring diabetes and has the potential to alter the management of the patient, who would otherwise be insulin dependent for life. Method: We identified a 6 year-old child who presented at 3 months of age with diabetic ketoacidosis. Blood samples for molecular genetic analysis were done. Results: The patient was diagnosed as a heterozygous for a missense mutation in the (KCNJ11) gene, for which she switched to sulphonylurea with a dose of 0.05 mg/kg/day. Conclusion: the need for medical practitioners to consider molecular testing for all patients who present with diabetes below 6 months of age as this will facilitate accurate diagnosis and appropriate therapy. VL - 3 IS - 4 ER -