摘要
回顾性分析1例出生3个月即诊断为糖原贮积病(glycogen storage disease,GSD)Ⅰa型,18岁又被诊断为2型糖尿病患者的临床特征及诊治策略。GSD Ⅰa型是一种以严重的空腹低血糖为主要表现的罕见病,在治疗过程中患者、家属和医生过多地关注纠正低血糖,导致患者合并糖尿病时临床漏诊误治,需引起临床医师的高度重视。
To discuss the clinical feature and treatment strategies of a patient diagnosed with type Ⅰa glycogen storage disease(GSD)at 3 months of age,and later developed type 2 diabetes at 18 years old.GSD Ⅰa is a rare disease characterized by severe fasting hypoglycaemia.During the treatment,excessive focus on correcting hypoglycemia by the patient,family,and healthcare providers can lead to misdiagnosis and mistreatment of concurrent diabetes,which requires attention from clinicians.
作者
冯绮文
陈寒蓓
苏青
Feng Qiwen;Chen Hanbei;Su Qing(Department of Endocrinology,Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine,Shanghai 200092,China)
出处
《中华内分泌代谢杂志》
CAS
CSCD
北大核心
2024年第9期779-784,共6页
Chinese Journal of Endocrinology and Metabolism
基金
上海市自然科学基金(19ZR1433200)。
关键词
糖原贮积病Ⅰa型
糖尿病
低血糖
Glycogen storage disease Ⅰa
Diabetes mellitus
Hypoglycemia
