在髓状甲状腺癌之前早期诊断MEN2B综合征的线索
Tashunka Taylor-Miller1, Katherine Tucker2,3, Ella Sugo4
1Centre for Clinical Genetics, Sydney Children's Hospital Randwick, New Sout Wales, Australia.
Pediatrics
|August 16, 2024
概括
多发性内分泌新陈代谢2B型 (MEN2B) 在儿童中经常出现延迟诊断. 包括对MEN2B的基因组查和对新生儿肠道性神经瘤的评估,可以改善结果.
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:
- 多发性内分泌瘤瘤2B型 (MEN2B) 是一种罕见的遗传疾病.
- 临床表现包括早期骨髓性甲状腺癌,肝细胞瘤和胃肠道问题.
- 诊断往往会延迟,导致疾病在呈现时已经晚期.
研究的目的:
- 描述澳大利亚诊断为MEN2B的儿童的临床过程.
- 通过识别特定的临床特征,突出早期诊断的潜力.
- 倡导将MEN2B纳入新生儿基因组查计划.
主要方法:
- 回顾5名被诊断患有MEN2B的儿童的病例系列.
- 对临床表现和诊断时间表的审查.
- 分析特定的表型特征,包括肠道性神经病.
主要成果:
- 所有5名儿童都出现了肠道性神经病,这可能是被忽视的诊断线索.
- 延迟诊断是常见的,转移性髓性甲状腺癌经常导致诊断.
- 在转染过程中重新排列的原型瘤基因 (RET) 中,M918T变异被典型识别.
结论:
- 肠道性神经病是儿科MEN2B的一个重要特征,可能有助于更早的诊断.
- 建议将MEN2B基因组查整合到新生儿查计划中.
- 通过新生儿查和临床评估进行早期诊断可以改善患者的治疗结果.
相关概念视频
Hyperthyroidism I: Introduction
30
Hyperthyroidism is a type of thyrotoxicosis characterized by the thyroid gland's overproduction of the thyroid hormones triiodothyronine (T3) and thyroxine (T4). This hormone excess increases the basal metabolic rate and enhances sensitivity to catecholamines.DiagnosisDiagnosis is based on clinical features and biochemical testing. It typically shows suppressed thyroid-stimulating hormone (TSH) levels below 0.4 mIU/L, with elevated free T3 and/or T4. Additional tests, including thyroid...
30
Hyperthyroidism II: Pathophysiology
28
Hyperthyroidism is a hypermetabolic state caused by elevated levels of thyroid hormones, triiodothyronine (T3) and thyroxine (T4). It results from dysregulation at the thyroid, pituitary, or immune system level and affects multiple organ systems.PathophysiologyThe most common cause of hyperthyroidism is Graves’ disease, an autoimmune disorder in which antibodies, specifically thyroid-stimulating antibodies (TSAb), a subtype of TSH receptor antibodies (TRAb), bind to and activate TSH...
28
Graves Disease II: Pathophysiology
26
Graves’ disease is an autoimmune disorder characterized by the production of thyroid-stimulating immunoglobulins (TSI) that activate TSH receptors, leading to excessive synthesis and release of thyroid hormones (T3 and T4) and resulting in hyperthyroidism.Among all causes of hyperthyroidism, Graves’ disease is the most common and can happen at any age, though it is more frequent in women. It produces a hypermetabolic state with features such as weight loss, tachycardia, tremor,...
26


