MODY 2 or GCK-MODY is a form of maturity-onset diabetes of the young. [1] It is due to any of several mutations in the GCK gene on human chromosome 7 for glucokinase. [2] Glucokinase serves as the glucose sensor for the pancreatic beta cell. Normal glucokinase triggers insulin secretion as the glucose exceeds about 90 mg/dl (5 mM).

2018年5月24日 · GCK-MODY (MODY2) is characterized by mild, stable fasting hyperglycemia (5.5-8.0 mmol/L; 99-144 mg/dL) present at birth. Beta-cell function shows minimal deterioration with increasing age (as in the general population).

2022年4月24日 · GCK‑MODY型糖尿病即因葡萄糖激酶基因（GCK）失活突变所致的葡萄糖激酶功能障碍导致的糖尿病，是单基因糖尿病（MDM）的常见类型，以往常称为青少年起病的成人型糖尿病（MODY）2 型，简称MODY2或GCK‑MODY。 GCK‑MODY的特征是轻度、非进展性的空腹高血糖，血糖异常通常在出生时即存在，但往往在体检或妊娠时才被发现。 GCK纯合失活性突变或复合杂合突变可以导致更为严重的永久性新生儿糖尿病，即GCK‑PNDM。 目前认为单基因糖尿 …

Heterozygous inactivating pathogenic variants in GCK have been described in patients with maturity onset diabetes of the young type 2 (GCK-MODY), which is characterized by mild fasting hyperglycemia. Hyperglycemia is present at birth but often only detected later in life, when individuals undergo routine screening tests.

2024年9月8日 · MODY2. Heterozygous mutation in the GCK gene is known to cause MODY2, characterized by mild fasting hyperglycemia. In MODY2, GCK gene shows functional defects reported in approximately 1 out of 1000 of the population . The clinical similarities between MODY2 and other diabetes types can complicate diagnosis, often resulting in misdiagnosis and ...

2020年12月10日 · mody2由葡萄糖激酶（gck）基因突变所致。 GCK作为胰腺β细胞的葡萄糖浓度感受器，是葡萄糖刺激胰岛素分泌的限速酶。 至今文献共报道了1441个家系中 ...

2011年4月26日 · The second most common cause is GCK-MODY due to heterozygous mutations in the GCK gene which impair the glucokinase function through different mechanisms such as enzymatic activity, protein stability, and increased interaction with its receptor. The enzyme normally acts as a glucose sensor in the pancreatic beta cell and regulates insulin ...

Background: Maturity-onset diabetes of the young, type 2 (MODY2) is caused by mutations in the glucokinase gene (GCK). The aim of our study was to determine the prevalence of GCK mutations in the Norwegian MODY Registry and to delineate the clinical phenotype of identified GCK mutation carriers.

mody2 是 葡萄糖激酶( gck) 基因 突变导致的糖尿病，患者只有 轻度高血糖 ，仅靠 饮食控制血糖 就可平稳，没有症状，常常是在常规体检、妊娠体检或发生其他疾病时，才被发现血糖有问题。

2016年3月9日 · 由葡萄糖激酶(gck)基因突变所致的mody2是其中最为常见的类型之一。目前对mody2的唯一诊断标准为基因检测，缺乏公认的临床标准来指导疾病诊疗。现总结近年来对此病新的认知及诊疗进展以协助临床工作。