相关实验视频
Updated: Jun 24, 2025
11:10
Hyperinsulinemic-euglycemic Clamps in Conscious, Unrestrained Mice
Published on: November 16, 2011
94.4K
在卡布基综合征中高胰岛素的临床和分子特征
Elizabeth Rosenfeld1,2, Lauren M Mitteer1, Kara Boodhansingh1
1Congenital Hyperinsulinism Center, Division of Endocrinology and Diabetes, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Journal of the Endocrine Society
|June 11, 2024
概括
卡布基综合征 (KS) 经常与先天性高胰岛素症 (HI) 相关,大多数婴儿在出生时都会出现低血糖症. 在KS患者中,早期对HI的评估至关重要,建议对KMT2D和KDM6A进行基因检测.
科学领域:
- 遗传学 遗传学 是一个
- 儿科 儿科 儿科
- 内分泌学 在内分泌学.
背景情况:
- 卡布基综合征 (KS) 是一种罕见的遗传疾病,与各种临床表现有关.
- 先天性高胰岛素症 (HI) 是一种严重的疾病,其特点是新生儿持续低血糖.
- 已知KS和HI之间存在关联,需要进一步调查它们之间的关系.
研究的目的:
- 阐明患有卡布基综合征 (KS) 的儿科患者先天性高胰岛素症 (HI) 的临床和分子特征.
- 在KS的背景下分析诊断时间表,治疗反应和HI的遗传基础.
主要方法:
- 进行了一项回顾性队列研究,涉及33名患有KS和HI的儿童.
- 收集的数据跨越1998年至2023年,重点关注HI的表现,管理,临床过程和遗传变异.
- 分析包括诊断年龄,用氧化物治疗的治疗结果和停止治疗.
主要成果:
- 低血糖症在76%的患者出生时被检测到,尽管HI诊断往往是延迟的 (平均年龄为1.8个月).
- 在KMT2D (73%) 和KDM6A (15%) 的致病变体被确定为关键的遗传因素.
- 在92%的病例中,Diazoxide有效地控制了HI,在46%的病例中,在幼儿时期可能停止治疗.
结论:
- 大多数患有KS和HI的儿童都会出现新生儿低血糖症,这凸显了及时诊断HI的必要性.
- 在这个队列中,氧化是治疗HI的有效方法,许多患者可以随着时间的推移停止治疗.
- 对于HI的婴儿,建议对KMT2D和KDM6A进行基因评估,特别是当怀疑或诊断出KS时.
相关概念视频
01:22Diabetes Mellitus: Overview and Type I Subtype
2.6K
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...
2.6K
01:15Hypoglycemia and Glucagon
256
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...
256
01:05Insulin Secretory Vesicles
4.9K
Insulin secretory vesicles release insulin to stimulate blood glucose uptake and regulate carbohydrate metabolism. When the blood glucose levels increase, glucose enters the pancreatic β-islet cells through glucose transporters. Once inside, glucose is metabolized through glycolysis, the citric acid cycle, and the electron transport chain, producing ATP. This increase in ATP concentration closes ATP-sensitive potassium channels, leading to depolarization of the membrane and the opening of...
4.9K
01:28Insulin: The Receptor and Signaling Pathways
1.2K
Insulin action is mediated through a receptor tyrosine kinase, akin to the IGF-1 receptor. The number of receptors per cell varies significantly, from 40 on erythrocytes to 300,000 on adipocytes and hepatocytes. The insulin receptor consists of linked α/β subunit dimers, forming a heterotetramer glycoprotein with two extracellular α subunits and two β subunits spanning the membrane. The α subunits inhibit the inherent tyrosine kinase activity of the β subunits, but...
1.2K