Stringer F, Preston C, MacIsaac R, Inchley F, Rivera-Woll L, Farrell S, Sachithanandan N
Departments of Endocrinology and Diabetes, Surgery and General Medicine, St Vincent's Hospital Melbourne and the University of Melbourne, Victoria, Australia.
Western Health, Melbourne, Victoria, Australia.
Endocrinol Diabetes Metab Case Rep. 2024 Aug 16;2024(3). doi: 10.1530/EDM-24-0007. Print 2024 Jul 1.
Congenital hyperinsulinism is the leading cause of persistent hypoglycaemia in infants and children; however, it is uncommon to be diagnosed in adulthood. We describe the cases of two sisters who presented with hyperinsulinaemic hypoglycaemia aged 47 and 57 years old, who were subsequently diagnosed with compound heterozygous likely pathogenic variants in the ABCC8 gene, a known cause of monogenic congenital hyperinsulinism. We discuss the typical presenting features, investigation findings, and treatment strategies for patients with this condition.
Congenital hyperinsulinism is a rare cause of hyperinsulinaemic hypoglycaemia diagnosed in adulthood. Clinical presentation is similar to an insulinoma, and imaging modalities may assist in differentiation. There are minimal medical therapies currently available for patients non-responsive to diazoxide (such as those with ABCC8 and KCNJ11 variants). Continuous glucose monitoring can be helpful in giving patients autonomy in managing their disease, as well as relieving anxiety and fear associated with hypoglycaemia.
先天性高胰岛素血症是婴幼儿持续性低血糖的主要原因；然而，在成年期被诊断出该病并不常见。我们描述了两名姐妹的病例，她们分别在47岁和57岁时出现高胰岛素血症性低血糖，随后被诊断出ABCC8基因存在复合杂合可能致病变异，ABCC8基因是单基因先天性高胰岛素血症的已知病因。我们讨论了这种疾病患者的典型临床表现、检查结果和治疗策略。
先天性高胰岛素血症是成年期诊断出的高胰岛素血症性低血糖的罕见病因。临床表现与胰岛素瘤相似，影像学检查可能有助于鉴别。目前对于对二氮嗪无反应的患者（如那些具有ABCC8和KCNJ11变异的患者），可用的药物治疗很少。持续葡萄糖监测有助于患者自主管理疾病，同时缓解与低血糖相关的焦虑和恐惧。
