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
Volume 3, Issue 4, August 2015, Pages: 84-86
Received: Apr. 12, 2014; Accepted: Jul. 28, 2014; Published: Jul. 9, 2015
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Authors
Eman Ahmad Alsafi, Department of Pediatrics, Elsafi, Al-Agha and Ahmad, King Abdulaziz University Hospital, Jeddah, Kingdom of Saudi Arabia
Ihab Abdulhamed Ahmad, Department of Pediatrics, Elsafi, Al-Agha and Ahmad, King Abdulaziz University Hospital, Jeddah, Kingdom of Saudi Arabia; Department of Pediatrics, Ahmad, Zagazig university Hospital, Egypte
Abdulmoein Eid AL-Agha, Department of Pediatrics, Elsafi, Al-Agha and Ahmad, King Abdulaziz University Hospital, Jeddah, Kingdom of Saudi Arabia
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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.
Keywords
Genetic Analysis, Neonatal Diabetes, Sulphonylurea
To cite this article
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, American Journal of Biomedical and Life Sciences. Vol. 3, No. 4, 2015, pp. 84-86. doi: 10.11648/j.ajbls.20150304.13
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