一名3岁男孩的胰岛素自身免疫综合征：中国迄今最年幼病例及文献综述
Insulin autoimmune syndrome in a 3-year-old boy: the youngest to date in China and a narrow review.
作者信息
Cheng Ming, Ding Yuan, Wang Dongmei, Gong Chunxiu
机构信息
Department of Endocrinology, Genetics, Metabolism, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, 100045, China.
MOE Key Laboratory of Major Diseases in Children, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, 56#Nan Lishi Rd, West District, 10045, Beijing, P R China.
出版信息
BMC Pediatr. 2025 Feb 4;25(1):94. doi: 10.1186/s12887-025-05395-0.
BACKGROUND
Insulin autoimmune syndrome (IAS), characterized by endogenous hypoglycemia associated with insulin autoantibodies, is a rare cause of hypoglycemia in pediatric patients. Here, we report a case of the youngest patient with IAS in China, and summarize the clinical characteristics of the disease through a narrow review of pediatric cases.
CASE PRESENTATION
A 3-year-10-month-old Chinese boy presented with unconsciousness. Initially, he was misdiagnosed with hyperinsulinemic hypoglycemia (HH) due to non-ketotic hypoglycemia. Whole exome sequencing (WES) was negative, and no pancreatic space-occupying lesions were identified. He continued to have intermittent episodes of symptomatic hypoglycemia. During an extended oral glucose tolerance test (OGTT), his insulin to C-peptide molar ratio was greater than 1, and anti-insulin antibodies (IAAs) measurements were as high as 54.38 COI (normal range 0-1 COI). High-resolution human leukocyte antigen (HLA) test showed a DRB1*08:03/*12:02 genotype. He was eventually diagnosed with IAS. Hypoglycemic episodes were not observed as long as the patient adhered to the low and frequent carbohydrate diet. Six months later, the patient's anti-insulin antibody had decreased to 10.17 COI, and mildly symptomatic hypoglycemia occasionally occurred in the case of noncompliance with the diet. Based on 11 studies from a literature review and our own case, a total of 12 pediatric patients were analyzed. Most of these patients presented with unconsciousness initially and their episodes of hypoglycemia do not follow a definitive pattern. Adjustments in diet serve as an effective intervention, and spontaneous remission is relatively common.
CONCLUSION
When differentiating the causes of HH in pediatric patients, IAS should not be overlooked. Elevated levels of IAAs and an inappropriate insulin to C-peptide molar ratio during an extended OGTT are critical indicators.
CLINICAL TRIAL NUMBER
Not applicable.
背景
胰岛素自身免疫综合征（IAS）以内源性低血糖伴胰岛素自身抗体为特征，是儿科患者低血糖的罕见病因。在此，我们报告中国最年轻的IAS患者病例，并通过对儿科病例的简要回顾总结该疾病的临床特征。
病例介绍
一名3岁10个月的中国男孩出现昏迷。最初，由于非酮症性低血糖，他被误诊为高胰岛素血症性低血糖（HH）。全外显子测序（WES）结果为阴性，未发现胰腺占位性病变。他持续出现间歇性症状性低血糖。在延长口服葡萄糖耐量试验（OGTT）期间，他的胰岛素与C肽摩尔比大于1，抗胰岛素抗体（IAA）测量值高达54.38 COI（正常范围0 - 1 COI）。高分辨率人类白细胞抗原（HLA）检测显示为DRB1*08:03/*12:02基因型。他最终被诊断为IAS。只要患者坚持低碳水化合物、少食多餐的饮食，就未观察到低血糖发作。6个月后，患者的抗胰岛素抗体降至10.17 COI，在饮食不依从的情况下偶尔会出现轻度症状性低血糖。基于文献综述中的11项研究及我们自己的病例，共分析了12例儿科患者。这些患者大多最初表现为昏迷，其低血糖发作无明确规律。饮食调整是一种有效的干预措施，且自发缓解较为常见。
结论
在鉴别儿科患者HH的病因时，不应忽视IAS。延长OGTT期间IAA水平升高以及胰岛素与C肽摩尔比不当是关键指标。
临床试验编号
不适用。
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