State Scientific Center of the Russian Federation Federal State Budgetary Institution, National Medical Research Center of Endocrinology of the Ministry of Health of the Russian Federation, 117036 Moscow, Russia.
Genes (Basel). 2023 Oct 17;14(10):1952. doi: 10.3390/genes14101952.
Non-diabetic hypoglycemia (NDH) is a collective term including the multiple causes of hypoglycemic syndrome not due to diabetes mellitus. NDH may result from insulinoma, IGF-2-omas, hypocorticism, Hirata's disease, genital disorders of glucose metabolism, etc. One of the most common causes of NDH faced by an endocrinologist is insulinoma, which in turn can be part of the hereditary syndrome of multiple endocrine neoplasia type 1 (MEN1). Congenital disorders of glucose metabolism in adult patients, on the contrary, are diagnosed extremely rarely, since they usually manifest in childhood. This article presents a unique clinical case of a patient with NDH and genetically verified MEN1 in combination with congenital hyperinsulinism due to an ABCC8 gene mutation.
A 43-year-old patient with hypoglycemic symptoms from childhood is presented, in whom multiple pancreatic tumors and fluctuations in glycemia from 38.7 mg/dL to 329.7 mg/dL (2.15 to 18.3 mmol/L) were detected in adulthood, but a mild course of hypoglycemic syndrome was noted. Numerous examinations that were performed to establish an accurate diagnosis are described, signs that served as a reason for expanding the complex of studies are indicated, possible pathogenetic mechanisms of the mild course of hypoglycemic syndrome and hyperglycemic conditions are discussed.
This case report is original and highlights that we must always remain intolerant of the inexplicable. Conducting an extended gene study can help perform a correct diagnosis in complex cases.
非糖尿病性低血糖（NDH）是一个统称，包括多种非糖尿病引起的低血糖综合征的原因。NDH 可能由胰岛素瘤、IGF-2 瘤、皮质功能减退症、平田病、葡萄糖代谢生殖器官疾病等引起。内分泌学家最常见的 NDH 原因之一是胰岛素瘤，而胰岛素瘤又可能是多发性内分泌腺肿瘤 1 型（MEN1）遗传综合征的一部分。相反，成年患者先天性葡萄糖代谢紊乱的诊断极为罕见，因为它们通常在儿童期表现出来。本文介绍了一例独特的 NDH 患者病例，该患者遗传证实 MEN1 合并 ABCC8 基因突变导致先天性高胰岛素血症。
一名 43 岁的患者，自童年起就出现低血糖症状，成年后检测到多个胰腺肿瘤和血糖波动从 38.7mg/dL 到 329.7mg/dL（2.15 至 18.3mmol/L），但低血糖综合征的病程较轻。描述了为确立准确诊断而进行的多项检查，指出了作为扩大研究范围的原因的迹象，讨论了低血糖综合征和高血糖情况下轻度病程的可能发病机制。
本病例报告具有原创性，强调我们必须始终对无法解释的情况保持不容忍的态度。进行扩展的基因研究有助于在复杂病例中进行正确诊断。
