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葡萄糖激酶成熟型青少年糖尿病作为应激性高血糖的模仿者:一例报告

Glucokinase maturity-onset diabetes of the young as a mimicker of stress hyperglycemia: a case report.

作者信息

Nakasato Yoshitaka, Terashita Shintaro, Kusabiraki Shohei, Horie Sadashi, Wada Takuya, Nakabayashi Motokazu, Nakamura Megumi, Yorifuji Tohru

机构信息

Department of Pediatrics, Itoigawa General Hospital, Niigata, Japan.

Department of Pediatrics, Toyama University Hospital, Toyama, Japan.

出版信息

Clin Pediatr Endocrinol. 2023;32(1):72-75. doi: 10.1297/cpe.2022-0024. Epub 2022 Dec 3.

Abstract

Febrile seizures are frequently accompanied by stress-induced hyperglycemia. Herein, we report the case of a 1.5-yr-old girl with hyperglycemia during febrile seizures who was subsequently diagnosed with glucokinase (GCK) maturity-onset diabetes of the young (MODY), considering its distinction from stress hyperglycemia. Following the development of febrile seizures owing to adenovirus infection, the patient presented a casual blood glucose level was 185 mg/dL. She had a multigenerational family history of diabetes and a hemoglobin A1c (HbA1c) level of 6.4%. Owing to the persistent glucose intolerance until the age of 5 years, genetic testing was performed, which revealed a heterozygous mutation in , and the patient was diagnosed with GCK-MODY. Precise diagnosis of GCK-MODY individuals is important to avoid administering unnecessary antidiabetic medications. Even during hyperglycemia under stress, multigenerational diabetes and mildly elevated HbA1c levels can suggest GCK-MODY.

摘要

热性惊厥常伴有应激性高血糖。在此,我们报告一例1.5岁女童,热性惊厥期间出现高血糖,考虑到其与应激性高血糖的区别,随后被诊断为葡萄糖激酶(GCK)成熟型青少年糖尿病(MODY)。因腺病毒感染发生热性惊厥后,患者随机血糖水平为185 mg/dL。她有糖尿病家族史且糖化血红蛋白(HbA1c)水平为6.4%。由于5岁前持续存在糖耐量异常,进行了基因检测,结果显示存在杂合突变,患者被诊断为GCK-MODY。准确诊断GCK-MODY个体对于避免使用不必要的抗糖尿病药物很重要。即使在应激性高血糖期间,多代糖尿病家族史和轻度升高的HbA1c水平也可能提示GCK-MODY。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/80e6/9887293/6f6c40726c5d/cpe-32-072-g001.jpg

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