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Congenital hyperinsulinism in clinical practice: From biochemical pathophysiology to new monitoring techniques
Frontiers in Pediatrics ( IF 2.6 ) Pub Date : 2022-09-23 , DOI: 10.3389/fped.2022.901338
Mariangela Martino 1 , Jacopo Sartorelli 1 , Vincenza Gragnaniello 2 , Alberto Burlina 2
Affiliation  

Congenital hyperinsulinism comprises a group of diseases characterized by a persistent hyperinsulinemic hypoglycemia, due to mutation in the genes involved in the regulation of insulin secretion. The severity and the duration of hypoglycemic episodes, primarily in the neonatal period, can lead to neurological impairment. Detecting blood sugar is relatively simple but, unfortunately, symptoms associated with hypoglycemia may be non-specific. Research in this field has led to novel insight in diagnosis, monitoring and treatment, leading to a better neurological outcome. Given the increased availability of continuous glucose monitoring systems that allow glucose level recognition in a minimally invasive way, monitoring the glycemic trend becomes easier and there are more possibilities of a better follow-up of patients. We aim to provide an overview of new available technologies and new discoveries and their potential impact on clinical practice, convinced that only with a better awareness of the disease and available tools we can have a better impact on CHI diagnosis, prevention and clinical sequelae.



中文翻译:

临床实践中的先天性高胰岛素血症:从生化病理生理学到新的监测技术

先天性高胰岛素血症包括一组特征为持续性高胰岛素性低血糖的疾病,这是由于参与调节胰岛素分泌的基因突变所致。低血糖发作的严重程度和持续时间,主要发生在新生儿期,可导致神经功能障碍。检测血糖相对简单,但不幸的是,与低血糖相关的症状可能是非特异性的。该领域的研究为诊断、监测和治疗带来了新的见解,从而带来了更好的神经学结果。鉴于允许以微创方式识别葡萄糖水平的连续血糖监测系统的可用性增加,监测血糖趋势变得更加容易,并且有更多可能更好地跟踪患者。

更新日期:2022-09-23
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