相关实验视频
Updated: Jul 11, 2025

11:10
Hyperinsulinemic-euglycemic Clamps in Conscious, Unrestrained Mice
Published on: November 16, 2011
94.5K
扩大了低胰岛素性低血糖性低血糖症的临床谱
Alena Welters1, Sarah M Leiter2, Nadine Bachmann3
1Department of General Paediatrics, Neonatology and Paediatric Cardiology, Medical Faculty, University Children's Hospital, Heinrich-Heine University, Düsseldorf, Germany.
Orphanet journal of rare diseases
|November 17, 2023
概括
患有低血糖症的婴儿可能患有与PI3K相关的疾病,模仿先天性高胰岛素症 (CHI). 这种被称为"伪高胰岛素症"的疾病是影响胰岛素信号的遗传变异造成的,需要与CHI区分开来.
科学领域:
- 内分泌学 在内分泌学.
- 遗传学 遗传学 是一个
- 代谢障碍 代谢障碍 代谢障碍
背景情况:
- 先天性高胰岛素症 (CHI) 具有可检测胰岛素的低血糖症的特征.
- 一个模仿CHI的独特实体,呈现出低血糖症但无法检测到的胰岛素,已在患有综合征的个体中观察到,这些个体在后受体胰岛素信号传递中具有马赛克基因变异.
- 这项研究旨在进一步调查这种情况,重点关注其代谢表型.
研究的目的:
- 为了扩大对PI3K相关的低胰岛素性低血糖性低血糖症的理解.
- 为了确定严重低血糖的婴儿的遗传原因和特征代谢表型.
- 为了区分这种情况与经典的先天性高胰岛素症.
主要方法:
- 代谢分析和外基因组测序在6名婴儿身上进行,这些婴儿呈现出低基性,低胰岛素性低血糖症.
- 在两个受影响个体的皮肤纤维细胞上进行了信号研究.
- 基因分析的重点是识别与胰岛素信号通路相关的基因变异.
主要成果:
- 研究了两名没有综合征特征的婴儿和四名具有综合征特征 (包括MCAP综合征) 的婴儿.
- 在两个个体中发现了致病性PIK3CA变异:一个是de novo生殖系变异,一个是后囊性马赛克变异.
- 标准的CHI导向疗法是无效的,强调了这种疾病的独特性质.
结论:
- 这项研究扩大了与PI3K相关的低胰岛素性低血糖症的范围.
- 激活后胰岛素受体信号的生殖线变异可以导致非综合征性低血糖症,这与CHI非常相似.
- 建议使用"伪高胰岛素症"一词,以方便在婴儿低血糖症中对这种独特的生物化学实体进行差异诊断.
相关概念视频
Hypoglycemia and Glucagon
273
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...
273
Oral Hypoglycemic Agents: Glinides
157
Repaglinide (Prandin) and Nateglinide (Starlix), known as glinides, are oral insulin secretagogues that stimulate insulin release from pancreatic β cells by closing the ATP-sensitive potassium channels (KATP channel). Repaglinide controls insulin release from pancreatic β cells by managing potassium efflux. It shares two binding sites with sulfonylureas and also has a unique site, indicating overlapping mechanisms of action. With a rapid onset and a 4-7 hour duration, it effectively...
157
Diabetes Mellitus: Overview and Type I Subtype
2.7K
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...
2.7K
Diabetes: Symptoms, Diagnosis, and Complications
554
For most patients, experiencing several weeks of polyuria, polydipsia, fatigue, and significant weight loss may indicate the presence of diabetes. Furthermore, adults displaying the phenotypic appearance of type 2 diabetes (particularly those who are obese and not initially insulin-requiring), may have islet cell autoantibodies, suggesting autoimmune-mediated β cell destruction and a diagnosis of latent autoimmune diabetes of adults (LADA). The categorization of glucose homeostasis is...
554
Diabetes Mellitus: Type 2 and Gestational
2.5K
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...
2.5K
Insulin: Dosing Regimen and Adverse Effects
182
Insulin-replacement therapy usually includes both long-acting insulin (basal) and short-acting insulin (to cater to postprandial needs). In a diverse group of type 1 diabetes patients, the average daily insulin dose is typically 0.5-0.7 units/kg body weight. However, obese patients and pubertal adolescents may need more due to insulin resistance.
The basal dose constitutes about 40%-50% of the total daily dose, with the rest as premeal insulin. The mealtime insulin dose should mirror...
The basal dose constitutes about 40%-50% of the total daily dose, with the rest as premeal insulin. The mealtime insulin dose should mirror...
182

