来自学术多学科非典型糖尿病计划的遗传学评估结果
Colby L Chase1, Marie-Louise Accardo1, Veronica Greve1
1Department of Internal Medicine, University of Michigan, Ann Arbor, MI 48109, USA.
Journal of the Endocrine Society
|June 30, 2025
概括
在非典型糖尿病计划中的遗传学评估在8.8%的患者中发现了罕见的单一性疾病,导致了精确的治疗和临床试验机会. 早期识别遗传倾向可以改善糖尿病护理.
科学领域:
- 医学遗传学 医学遗传学
- 内分泌学 在内分泌学.
- 代谢疾病 代谢疾病
背景情况:
- 由于症状重叠,罕见的单一性疾病可能被误诊为常见糖尿病.
- 错误的诊断导致低于最佳或不正确的治疗,影响患者的治疗结果.
- 基因诊断提供了精确的治疗策略和临床试验资格.
研究的目的:
- 突出在多学科非典型糖尿病计划中评估的患者的临床特征.
- 在这个队列中报告基因评估的诊断结果.
- 强调遗传学在诊断非典型糖尿病表现中的作用.
主要方法:
- 87名患者的回顾性队列审查,转到遗传学.
- 患者由内分泌学家在非典型糖尿病计划中转诊.
- 在高等学术医疗中心从2019年9月到2022年10月收集的数据.
主要成果:
- 在6名患者 (8.8%) 中发现了一种确认诊断的致病变体,包括脂质营养不良,单一性糖尿病和单一性肥胖症.
- 15名患者 (22.0%) 具有不确定的意义的变异,其中5人与临床特征相关.
- 确定的诊断使得精确的治疗调整和临床试验招生成为可能.
结论:
- 遗传学和内分泌学之间的多学科合作改善了导致糖尿病的罕见遗传疾病的识别.
- 识别特定的临床特征对于及时的遗传学转诊至关重要.
- 准确的基因诊断可以提高患者的管理和非典型糖尿病的治疗选择.
相关概念视频
Diabetes Mellitus: Type 2 and Gestational
3.0K
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...
3.0K
Diabetes Mellitus: Overview and Type I Subtype
3.3K
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...
3.3K
Diabetes: Management and Pharmacotherapy
409
The therapy for diabetes aims to alleviate hyperglycemia-related symptoms, prevent acute metabolic decompensation, and reduce chronic end-organ complications. Glycemic control is evaluated through short-term (self-monitoring, continuous glucose monitoring) and long-term (A1c, fructosamine) metrics, enabling near real-time tracking of blood glucose levels and reflecting glycemic control over specific time frames.
Insulin remains the cornerstone of treatment for most patients with type 1 and many...
Insulin remains the cornerstone of treatment for most patients with type 1 and many...
409
Pathophysiology of Diabetes
1.2K
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,...
1.2K
Diabetes: Symptoms, Diagnosis, and Complications
706
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...
706
Carbohydrate Metabolism
11.8K
Carbohydrates are polymers composed of molecules containing atoms of carbon, hydrogen and oxygen. One gram of carbohydrate can provide four kilo-calories of energy, which makes it the most efficient instant energy source.
Starch accounts for approximately 60% of the carbohydrates consumed by humans. Since amylase enzymes cannot function in the stomach's acidic environment, starch can only be digested in the mouth and small intestine. Simple sugars are found naturally in milk and fruits in...
Starch accounts for approximately 60% of the carbohydrates consumed by humans. Since amylase enzymes cannot function in the stomach's acidic environment, starch can only be digested in the mouth and small intestine. Simple sugars are found naturally in milk and fruits in...
11.8K


