相关实验视频
Updated: Jul 24, 2025

11:10
Hyperinsulinemic-euglycemic Clamps in Conscious, Unrestrained Mice
Published on: November 16, 2011
94.5K
超胰岛素性低血糖和生长激素缺乏二次到20p11删除
Erica Wee1,2, John Herriges2,3, Kavitha Dileepan1,2
1Division of Pediatric Endocrinology and Diabetes, Children's Mercy Kansas City, Kansas City, MO, USA.
Case reports in endocrinology
|July 5, 2023
概括
婴儿严重低血糖会导致神经系统问题. 这一案例突出显示了一种罕见的遗传缺失 (20p11.22p11.21),导致高胰岛素和生长激素缺乏,成功用生长激素和二氧化治疗.
科学领域:
- 儿科内分泌学 儿科内分泌学
- 临床遗传学 临床遗传学
- 代谢障碍 代谢障碍 代谢障碍
背景情况:
- 婴儿和儿童的低血糖症对神经系统并发症有很大的风险.
- 确定低血糖的根本原因对于有效治疗至关重要.
- 过高胰岛素和生长激素缺乏是低血糖的确立原因,但很少同时发生.
研究的目的:
- 报告一个罕见的婴儿严重低血糖病例.
- 为了调查高胰岛素和生长激素缺乏症的同时发生.
- 确定这种复杂表现的遗传基础和治疗结果.
主要方法:
- 一个患有严重低血糖症的4个月大的男孩的临床表现和生物化学评估.
- 诊断工作,包括对高胰岛素和生长激素缺乏症的评估.
- 基因分析以确定潜在的染色体异常.
- 用复合人体生长激素和氧化物进行治疗干预.
主要成果:
- 该患者出现严重的低血糖症,并被诊断出同时患有高胰岛素和生长激素缺乏症.
- 用复合人体生长激素和氧化物治疗使血糖水平正常化.
- 基因分析显示了20p11.22p11.21的删除.
- 这种删除与hypopituitarism有关,在这种情况下,异常地,高胰岛素.
结论:
- 20p11.22p11.21删除可以表现为生长激素缺乏和高胰岛素,导致严重的低血糖.
- 这一案例强调了儿童低血糖症综合诊断评估的重要性.
- 这是少数报告的病例之一,将20p11.22p11.21删除与高胰岛素症联系起来.
相关概念视频
Hypoglycemia and Glucagon
305
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...
305
Inborn Errors of Metabolism
204
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...
204
Insulin: Dosing Regimen and Adverse Effects
213
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...
213
Diabetes Mellitus: Overview and Type I Subtype
2.8K
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...
2.8K
Glucose Homeostasis: Pancreatic Islets and Insulin Secretion
1.3K
The pancreatic islets comprising only 1%-2% of the volume are highly vascularized and innervated mini-organs. They contain five endocrine cell types, including β cells that secrete insulin, which is synthesized as a single polypeptide chain, preproinsulin, processed to proinsulin, and finally to insulin and C-peptide. This process is complex and regulated, involving the Golgi complex, the endoplasmic reticulum, and the secretory granules of the β cell.
Insulin and C-peptide are...
Insulin and C-peptide are...
1.3K
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

