Pediatrix Medical Group, Dallas, TX.
Neoreviews. 2021 Apr;22(4):e230-e240. doi: 10.1542/neo.22-4-e230.
Hyperinsulinemic hypoglycemia (HH) is fairly common in neonates, particularly those born to diabetic mothers and those who are either large or small for gestational age. Immediate management of the disease focuses on achieving normoglycemia through frequent high-calorie feedings and/or intravenous glucose administration. Glucagon may be used for unstable infants in whom intravenous access cannot be obtained and enteral feedings cannot be administered. HH that persists despite these interventions should raise concern for congenital hyperinsulinism (CHI), prompting clinicians to perform a thorough evaluation. CHI consists of a group of genetic disorders in which inappropriate insulin secretion results in persistent hypoglycemia. Defects can occur in the various genes that regulate the pathway for insulin secretion in the pancreatic β-cells. Pharmacologic therapies are used for long-term management of the disease coupled with either curative or therapeutic surgical intervention. Because of the developing brain's high demand for glucose, these infants are at increased risk for hypoglycemic brain injury. This review will describe the pathogenesis of CHI, outlining the more common genetic mutations and associated syndromes. We will also discuss the clinical presentation, diagnosis, and management of CHI while providing insight into the overall prognosis.
高胰岛素血症性低血糖症（HH）在新生儿中较为常见，尤其是那些出生于糖尿病母亲的婴儿，以及那些胎龄过大或过小的婴儿。该病的即刻治疗重点是通过频繁给予高热量喂养和/或静脉葡萄糖输注使血糖恢复正常。对于无法建立静脉通路且无法给予肠内喂养的不稳定婴儿，可使用胰高血糖素。尽管进行了这些干预措施，HH 仍持续存在时应引起对先天性高胰岛素血症（CHI）的关注，促使临床医生进行全面评估。CHI 由一组遗传疾病组成，这些疾病中不适当的胰岛素分泌导致持续低血糖。缺陷可能发生在调节胰腺β细胞胰岛素分泌途径的各种基因中。药物治疗用于该疾病的长期管理，同时结合根治性或治疗性手术干预。由于发育中的大脑对葡萄糖的需求很高，这些婴儿发生低血糖性脑损伤的风险增加。这篇综述将描述 CHI 的发病机制，概述更常见的基因突变和相关综合征。我们还将讨论 CHI 的临床表现、诊断和治疗，并深入了解整体预后。
