一个大意大利队列的先天性高胰岛素症:一项回顾性研究
Francesco Tagliaferri1, Roberta Iannuzzi2,3, Gabriele Canciani2,3
1Division of Metabolism, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.
Hormone research in paediatrics
|May 28, 2024
概括
在一个大型的意大利队列中评估了先天性高胰岛素症 (CHI) 诊断和治疗. 早期诊断和及时管理带来了良好的结果,神经复杂症的发生率很低.
科学领域:
- 儿科 儿科 儿科
- 内分泌学 在内分泌学.
- 遗传学 遗传学 是一个
背景情况:
- 先天性高胰岛素症 (CHI) 是一种罕见的遗传疾病,其特征是胰岛素分泌过多,导致严重的低血糖症.
- 早期诊断和适当的治疗对于预防CHI患者的神经损伤至关重要.
- 本研究评估了大量的意大利队列,以描述CHI的诊断和治疗方法和结果.
研究的目的:
- 描述诊断过程,医疗,营养和手术管理,以及一大批意大利先天性高胰岛素症 (CHI) 患者的神经结果.
- 分析对二氧化和二氧化的治疗反应,并确定与成功结果相关的因素.
- 为了将遗传发现,成像和组织学与CHI分类和患者结果相关联.
主要方法:
- 在1985年至2022年期间,对154名CHI患者的回顾性分析,这些患者在Ospedale Pediatrico Bambino Gesù住院.
- 对诊断方法的审查,包括遗传检测,胰腺静脉采样和18F-DOPA PET/CT.
- 评估医疗 (氧化,),营养和手术管理,以及神经认知和的评估.
主要成果:
- 在第一年内,低血糖发生在85.5%的患者中;中位数的诊断时间为1天.
- 氧化物反应率为66.9%,而烯胺反应率为61.4%. 40%的人没有接受治疗.
- 在34%的人群中发现了基因突变 (ABCC8);80.6%被归类为扩散性CHI. 轻度发育迟缓/智力残疾患者为15.7%;患者为13.7%.
结论:
- 诊断和治疗结果与国际标准一致,显示神经学结果的比率相对较低.
- 早期诊断 (在2周内) 和及时管理是CHI有利结果的关键因素.
- 将CHI患者转介到多学科专家中心对于最佳的护理和知识传播至关重要.
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