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|a 10.3760/cma.j.issn.0578-1310.2019.06.008
|2 doi
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|e rakwb
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|a chi
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| 100 |
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|a Zhang, J
|e verfasserin
|4 aut
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|a Hyperglycemia caused by mutation of GCK gene in 10 patients analysis of clinical and mutation characteristics
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|c 2019
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|a Text
|b txt
|2 rdacontent
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|a ƒaComputermedien
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|2 rdamedia
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|a ƒa Online-Ressource
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|a Date Completed 23.08.2019
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|a Date Revised 10.09.2019
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|a published: Print
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|a Citation Status MEDLINE
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|a Objective: To explore the gene mutation characteristics and detailed clinical presentations of hyperglycemia caused by GCK mutations in 10 patients. Methods: The clinical and follow-up data of 10 patients with hyperglycemia caused by mutation of GCK gene were reviewed. The patients were ascertained between January 1, 2014 and August 31, 2018 at the Department of Pediatrics, the First Affiliated Hospital of Zhejiang University and Ningbo Women & Children's Hospital. Clinical data were collected, including age, gender, main complaint, family history, fasting blood glucose, fasting blood insulin, 2-hour blood glucose, 2-hour blood insulin after oral glucose tolerance test, glycosylated hemoglobin, anti-glutamic acid decarboxylase antibody and body mass index. Mutations of GCK gene were detected by Sanger sequencing or high-throughput sequencing of diabetes-related genes in the patients and their family members. Results: There were ten patients, 8 of them were male, 2 were female.The ages at diagnosis varied between 4.7 to 12.3 years. The patients usually did not have obvious clinical symptoms of diabetes mellitus. Most of them were unexpectedly found to have hyperglycemia and with impaired glucose metabolism in three consecutive generations. The fasting blood glucose of patients was 6.8-7.7 mmol/L, 2-hour postprandial blood glucose was 7.8-11.6 mmol/L. Fasting blood insulin was 0.5-8.5 mU/L, glucose tolerance test results showed that 2 h postprondial blood insulin was 1.3-55.4 mU/L. The level of glycosylated hemoglobin was 6.1%-6.8%. Anti-glutamic acid decarboxylase antibody was negative in all patients. The GCK mutations identified in patients and one of their parents were located at exon5 (4 cases), exon9 (2 cases), exon2 (1 case), exon4 (1 case), exon6 (1 case) and exon7 (1 case). Conclusions: Most of the hyperglycemia patients caused by GCK mutations did not have typical clinical symptoms of diabetes. The fasting blood glucose was slightly elevated. Abnormal glucose tolerance test results were found in all 10 patients. Three consecutive generations of family had impaired glucose metabolism. GCK mutations located at exon 5 were common in 10 cases. There was no correlation between type of mutations and plasma glucose levels in domestic and international researches. When fasting glucose was found abnormal in clinic, a complete family history should be taken and the GCK gene should be sequenced to confirm the diagnosis in time
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|a Journal Article
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|a Child
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|a Diabetes mellitus
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|a Genetic Variation
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|a Glucokinase
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|a Hyperglycemia
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|a Blood Glucose
|2 NLM
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|a Genetic Markers
|2 NLM
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|a Glucokinase
|2 NLM
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|a EC 2.7.1.2
|2 NLM
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| 700 |
1 |
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|a Yuan, K
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Ding, S X
|e verfasserin
|4 aut
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1 |
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|a Kong, Y M
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Zhu, J F
|e verfasserin
|4 aut
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1 |
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|a Fang, Y L
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Liang, L
|e verfasserin
|4 aut
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1 |
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|a Fu, J F
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Wang, C L
|e verfasserin
|4 aut
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| 773 |
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|i Enthalten in
|t Zhonghua er ke za zhi = Chinese journal of pediatrics
|d 1960
|g 57(2019), 6 vom: 02. Juni, Seite 440-444
|w (DE-627)NLM136249191
|x 0578-1310
|7 nnas
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| 773 |
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|g volume:57
|g year:2019
|g number:6
|g day:02
|g month:06
|g pages:440-444
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|u http://dx.doi.org/10.3760/cma.j.issn.0578-1310.2019.06.008
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