|
|
|
|
GCK Mutation in a Child with Maturity Onset Diabetes of the Young, Type 2
|
|
|
|
|
|
|
|
نویسنده
|
Noorian Shahab ,Sayarifard Fatemeh ,Farhadi Elham ,Barbetti Fabrizio ,Rezaei Nima
|
|
منبع
|
innovative journal of pediatrics - 2013 - دوره : 23 - شماره : 2 - صفحه:226 -228
|
|
چکیده
|
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.
|
|
کلیدواژه
|
Maturity-onset Diabetes; GCK; Fasting Hyperglycemia; Diabetes
|
|
آدرس
|
tehran university of medical sciences tums, Children’s Medical Center, Department of Pediatric Endocrinology and Metabolism, ایران, tehran university of medical sciences tums, Children’s Medical Center, Growth and Development Research Center, Department of Pediatric Endocrinology and Metabolism, ایران, tehran university of medical sciences tums, Molecular Immunology Research Center, Department of Immunology, ایران, Tor Vergata University Hospital, Bambino Gesù Children's Hospital, Department of Laboratory Medicine, Laboratory of Mendelian Diabetes, Italy, tehran university of medical sciences tums, Molecular Immunology Research Center, Children's Medical Center, Research Center for Immunodeficiencies, Department of Immunology, Department of Pediatrics, ایران
|
|
پست الکترونیکی
|
rezaei_nima@tums.ac.ir
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
Authors
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|