Ajala Oluremi N, Huffman David M, Ghobrial Ibrahim I
Department of Internal Medicine, University of Pittsburgh Medical Center, McKeesport, PA, USA;
Department of Internal Medicine, University of Tennessee College of Medicine, Chattanooga, TN, USA.
J Community Hosp Intern Med Perspect. 2016 Oct 26;6(5):32983. doi: 10.3402/jchimp.v6.32983. eCollection 2016.
Hypoglycemia occurs frequently in patients both in the inpatient and outpatient settings. While most hypoglycemia unrelated to diabetes treatment results from excessive endogenous insulin action, rare cases involve functional and congenital mutations in glycolytic enzymes of insulin regulation.
A 21-year-old obese woman presented to the emergency department with complaints of repeated episodes of lethargy, syncope, dizziness, and sweating. She was referred from an outside facility on suspicion of insulinoma, with severe hypoglycemia unresponsive to repeated dextrose infusions. Her plasma glucose was 20 mg/dl at presentation, 44 mg/dl on arrival at our facility, and remained low in spite of multiple dextrose infusions. The patient had been treated for persistent hyperinsulinemic hypoglycemia of infancy at our neonatal facility and 4 years ago was diagnosed as having an activating glucokinase (GCK) mutation. She was then treated with octreotide and diazoxide with improvement in symptoms and blood glucose levels.
Improved diagnostication and management of uncommon genetic mutations as typified in this patient with an activating mutation of the GCK gene has expanded the spectrum of disease in adult medicine. This calls for improved patient information dissemination across different levels and aspects of the health care delivery system to ensure cost-effective and timely health care.
低血糖在住院患者和门诊患者中均频繁发生。虽然大多数与糖尿病治疗无关的低血糖是由内源性胰岛素作用过度引起的，但罕见病例涉及胰岛素调节糖酵解酶的功能性和先天性突变。
一名21岁肥胖女性因反复出现嗜睡、晕厥、头晕和出汗症状就诊于急诊科。她从外部机构转诊而来，怀疑患有胰岛素瘤，严重低血糖对反复输注葡萄糖无反应。就诊时她的血浆葡萄糖为20mg/dl，到达我院时为44mg/dl，尽管多次输注葡萄糖仍维持在低水平。该患者曾在我院新生儿科接受过婴儿持续性高胰岛素血症性低血糖的治疗，4年前被诊断为具有激活型葡萄糖激酶（GCK）突变。随后她接受了奥曲肽和二氮嗪治疗，症状和血糖水平有所改善。
对于像该GCK基因激活突变患者这样典型的罕见基因突变，其诊断和管理的改善拓宽了成人医学的疾病谱。这就要求在医疗服务体系的不同层面和方面加强患者信息传播，以确保提供具有成本效益且及时的医疗服务。
