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Iranian Journal of Pediatrics
Tehran University of Medical Sciences Press
ISSN: 1018-4406
EISSN: 2008-2150
Vol. 23, No. 2, 2013, pp. 226-228
Bioline Code: pe13042
Full paper language: English
Document type: Case Report
Document available free of charge

Iranian Journal of Pediatrics, Vol. 23, No. 2, 2013, pp. 226-228

 en GCK Mutation in a Child with Maturity Onset Diabetes of the Young, Type 2
Noorian, Shahab; Sayarifard, Fatemeh; Farhadi, Elham; Barbetti, Fabrizio & Rezaei, Nima

Abstract

Background: Maturity onset diabetes of the young type 2 (MODY) is an inherited disorder due to mutations in glucokinase (GCK) gene, which lead to mild fasting hyperglycemia.
Case Presentation: Herein an otherwise healthy 9-year old boy with hyperglycemia is presented in whom the diagnosis of MODY2 was suspected. Genetic studies showed heterozygous inactivating GCK gene mutation in exon 8 (c.1010delA) in this patient. The same mutation was found in his father as well. The patient received some dietary advices without any medication.
Conclusion: The identification of GCK mutation and diagnosis of MODY2 helps the clinicians to predict the disease course, prognosis and to exclude other types of diabetes.

Keywords
Maturity-onset Diabetes; GCK; Fasting Hyperglycemia; Diabetes

 
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