在患有高胰岛素血糖低血糖症和ABCC8基因突变的新生儿中持续监测血糖
Endocrinology, diabetes & metabolism case reports
|June 6, 2025
概括
新生儿低血糖症,通常是由高胰岛素低血糖症 (HH) 引起的,可能具有挑战性. 持续血糖监测 (CGM) 有助于检测所有血糖波动,减少受影响新生儿的侵入性手术.
科学领域:
- 新生儿科学 新生儿科学
- 儿科内分泌学 儿科内分泌学
- 医学遗传学 医学遗传学
背景情况:
- 新生儿低血糖影响5-15%的新生儿,造成神经系统并发症的风险.
- 超胰岛素性低血糖 (HH) 是一个常见的原因,永久形式与遗传因素 (如ABCC8基因突变) 相关.
- 精确的血糖监测对于管理高血糖和预防不良结果至关重要.
研究的目的:
- 报告一个持续的,严重的新生儿低血糖症,对标准治疗没有反应的病例.
- 评估持续血糖监测 (CGM) 在处理此类病例中的有用性.
- 突出基因检测和先进成像在诊断HH的重要性.
主要方法:
- 在患有持续低血糖症的新生儿中实施持续血糖监测 (CGM).
- 基因检测用于识别与HH相关的基因突变,特别是ABCC8.
- 定子发射断层扫描 (18F-DOPA PET) 用于分散与焦点HH的差异诊断.
主要成果:
- CGM成功地减少了侵入性葡萄糖测量的频率.
- 基因测试显示,ABCC8基因中存在异合拼接变异.
- 18F-DOPA PET证实了HH的扩散形式,导致建议进行胰腺切除术.
结论:
- 新生儿低血糖症需要彻底的差分诊断才能得到有效的治疗.
- 在持续的HH病例中,基因检测至关重要,以确定可治疗的疾病并改善长期结果.
- CGM提供了一种有价值的,不那么侵入性的方法来监测新生儿的血糖波动,HH.
更多相关视频
08:32Studying the Hypothalamic Insulin Signal to Peripheral Glucose Intolerance with a Continuous Drug Infusion System into the Mouse Brain
Published on: January 4, 2018
10.3K
07:35Author Spotlight: Investigating the Blood Glucose Homeostasis in Murine Brain Using a Cost-Effective Hyperglycemic And Hypoglycemic Clamp Technique
Published on: January 26, 2024
1.3K
相关概念视频
Glucose Transporters
22.5K
Glucose transporters facilitate the transport of glucose across the cell membrane. In addition to glucose, some glucose transporters can also aid the movement of other hexoses such as fructose, mannose, and galactose.
Facilitated diffusion-glucose transporters (GLUTs) are encoded by the solute-linked carrier (SLC) family 2, subfamily A gene family, or SLC2A. The 14 GLUT protein members are distributed into three classes:
Facilitated diffusion-glucose transporters (GLUTs) are encoded by the solute-linked carrier (SLC) family 2, subfamily A gene family, or SLC2A. The 14 GLUT protein members are distributed into three classes:
22.5K
Hypoglycemia and Glucagon
207
Without prolonged fasting, healthy individuals maintain blood glucose levels above 3.5 mM due to a well-adapted neuroendocrine counterregulatory system that effectively prevents acute hypoglycemia, a potentially life-threatening condition. The primary clinical scenarios for hypoglycemia encompass diabetes treatment, inappropriate production of endogenous insulin or insulin-like substances by tumors, and the use of glucose-lowering agents in non-diabetic individuals. Notably, hypoglycemia in the...
207
Diabetes Mellitus: Type 2 and Gestational
2.2K
Type 2 diabetes, characterized by insulin resistance, arises when the insulin receptors on cells lose responsiveness to insulin, diminishing the cell's capacity to take up glucose, resulting in elevated blood glucose levels. To receive a diagnosis of Type 2 diabetes, a series of blood glucose tests are necessary to assess whether the blood glucose falls within normal parameters. If the result is out of the normal range, a patient may be diagnosed as prediabetic or diabetic, depending on the...
2.2K
Inborn Errors of Metabolism
145
Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
145
Diabetes Mellitus: Overview and Type I Subtype
2.5K
Diabetes mellitus is a chronic metabolic disorder characterized by high blood glucose levels due to inadequate insulin production, insulin resistance, or both. The condition affects millions worldwide and can significantly impact their health and quality of life.
Type 1 diabetes is an autoimmune disease in which the immune system mistakenly attacks and destroys the insulin-producing beta cells in the pancreas. As a result, the body is unable to produce sufficient insulin, and individuals with...
Type 1 diabetes is an autoimmune disease in which the immune system mistakenly attacks and destroys the insulin-producing beta cells in the pancreas. As a result, the body is unable to produce sufficient insulin, and individuals with...
2.5K
Pathophysiology of Diabetes
900
Diabetes mellitus is a chronic metabolic disorder characterized by hyperglycemia. The four categories of diabetes are type 1 diabetes, type 2 diabetes, other specific types of diabetes, and gestational diabetes.
Type 1 diabetes is characterized by autoimmune-mediated destruction of pancreatic β cells, with environmental factors potentially triggering this process in genetically susceptible individuals. Despite many not having a family history, certain genes increase susceptibility,...
Type 1 diabetes is characterized by autoimmune-mediated destruction of pancreatic β cells, with environmental factors potentially triggering this process in genetically susceptible individuals. Despite many not having a family history, certain genes increase susceptibility,...
900
