[儿童的原发性甲状腺功能障碍症]
A R Benina1, A A Kolodkina1, A N Tiul'pakov2
1Endocrinology Research Center.
Problemy endokrinologii
|July 29, 2024
概括
这项研究突出了儿童原发性副甲状腺症 (PHPT) 的临床特征和遗传基础,揭示了 MEN1,CDC73 和 RET 基因的突变. 由于儿科PHPT病例的非特异性症状,早期诊断至关重要.
科学领域:
- 儿科内分泌学 儿科内分泌学
- 内分泌系统疾病 内分泌系统疾病
- 分子遗传学 分子遗传学
背景情况:
- 原发性偏甲状腺症 (PHPT) 是儿童罕见的内分泌疾病,由于模糊的症状,往往被诊断为晚期.
- 它的特征是过度分泌副甲状腺激素 (PTH),导致水平升高.
研究的目的:
- 研究儿科患者PHPT的临床表现和分子遗传基础.
- 分析俄罗斯联邦报告的儿童PHPT病例中最大的队列.
主要方法:
- 在2014-2022年间,对49名被诊断患有PHPT的儿童进行了回顾性观察性研究.
- 进行了全面的实验室,仪器和分子遗传分析.
- 对39名手术患者的手术和病理数据进行了审查.
主要成果:
- PHPT症状出现在大约13.8岁左右,在15.8岁时被诊断出;常见症状包括疲劳,疼痛和骨折.
- 患有高PTH,和低血的病例普遍存在;43%的人患有高血症.
- 分子遗传研究在32.7%的患者中发现了突变,其中MEN1突变是最常见的 (n=11).
- 在手术患者中,甲状腺腺瘤是最常见的诊断 (84.6%).
结论:
- 这项研究提供了关于儿科PHPT临床过程和遗传情景的见解.
- 分子遗传分析对于了解儿童PHPT病因学至关重要.
- 这些发现强调了识别非特异性症状对于及时诊断的重要性.
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