Iwańczyk Patrycja, Majewska Agata, Issat Tadeusz, Hoffman-Zacharska Dorota, Krajewski Paweł, Lipska-Karpińska Karolina
Endocrinol Diabetes Metab Case Rep. 2025 Jun 5;2025(2). doi: 10.1530/EDM-25-0002. Print 2025 Apr 1.
Neonatal hypoglycemia is a metabolic disorder affecting approximately 5-15% of newborns and is a risk factor for adverse neurological outcomes. The most common cause of hypoglycemia is hyperinsulinemic hypoglycemia (HH), which presents itself in two forms: transient and permanent. Permanent HH is associated with genetic factors, including monogenic forms such as ABCC8 gene mutation. In HH, proper glycemic monitoring is crucial for revealing all hypoglycemic events; therefore, continuous glucose monitoring (CGM) may benefit these patients. We report a case of a newborn with persistent severe hypoglycemia that was unresponsive to intravenous glucose administration. Due to frequent severe hypoglycemic events, we implemented CGM, decreasing the number of invasive procedures for assessing glucose concentration. Genetic testing revealed the presence of a heterozygous splicing variant in ABCC8. The patient qualified for positron emission tomography, and a diffuse form of HH was diagnosed. Consequently, the patient qualified for a full pancreatectomy. Neonatal hypoglycemia presents diagnostic challenges, as proper differential diagnosis is crucial for successful treatment. In cases of persistent HH, genetic testing should always be offered to exclude conditions requiring prompt treatment and to achieve a good long-term outcome. As some hypoglycemic events might be asymptomatic, CGM might be a better option for patients with HH, as it allows for the analysis of all glycemic fluctuations and, therefore, reduces the need for invasive procedures.
Persistent hypoglycemia in neonates requires differential diagnosis. In severe cases of HH not responding to diazoxide, positron emission tomography using 18F-fluoro-L-dihydroxyphenylalanine (18F-DOPA PET) is the test of choice to make diffuse/local HH differential diagnoses. Continuous glucose monitoring allows for quicker reaction during hypoglycemia and hyperglycemia, reducing possible complications that can affect the neonatal brain. Nowadays, there are many available resources that limit causing pain in neonates. There are reports of using CGM in neonates, but it is not registered.
新生儿低血糖是一种代谢紊乱疾病，约影响5%-15%的新生儿，是不良神经学预后的一个危险因素。低血糖最常见的原因是高胰岛素血症性低血糖（HH），它有两种表现形式：暂时性和永久性。永久性HH与遗传因素有关，包括单基因形式，如ABCC8基因突变。在HH中，适当的血糖监测对于发现所有低血糖事件至关重要；因此，持续葡萄糖监测（CGM）可能使这些患者受益。我们报告一例新生儿持续性严重低血糖病例，该患儿对静脉输注葡萄糖无反应。由于频繁发生严重低血糖事件，我们实施了CGM，减少了评估血糖浓度的侵入性操作次数。基因检测发现ABCC8存在杂合剪接变异。该患者符合正电子发射断层扫描条件，被诊断为弥漫型HH。因此，该患者符合全胰腺切除术条件。新生儿低血糖存在诊断挑战，因为正确的鉴别诊断对于成功治疗至关重要。在持续性HH病例中，应始终进行基因检测，以排除需要及时治疗的疾病并实现良好的长期预后。由于一些低血糖事件可能无症状，CGM可能是HH患者的更好选择，因为它可以分析所有血糖波动情况，从而减少侵入性操作的需求。
新生儿持续性低血糖需要进行鉴别诊断。在对二氮嗪无反应的严重HH病例中，使用18F-氟-L-二羟基苯丙氨酸（18F-DOPA PET）进行正电子发射断层扫描是进行弥漫性/局灶性HH鉴别诊断的首选检查。持续葡萄糖监测可在低血糖和高血糖期间更快做出反应，减少可能影响新生儿大脑的并发症。如今，有许多可用资源可减少对新生儿造成的疼痛。有关于在新生儿中使用CGM的报道，但它未注册。
