Pediatric Endocrinology and Diabetology, Department of Pediatrics, Gynecology and Obstetrics, University Hospitals of Geneva, Rue Willy-Donzé 6, 1205, Geneva, Switzerland.
Department of Genetic Medicine and Development, Faculty of Medicine, University of Geneva, 1211, Geneva, Switzerland.
BMC Endocr Disord. 2023 Oct 20;23(1):228. doi: 10.1186/s12902-023-01478-0.
New-onset diabetes in youth encompasses type 1 diabetes, type 2 diabetes, monogenic diabetes, and rarer subtypes like Type B insulin resistance syndrome and ketosis-prone atypical diabetes in African populations. Some cases defy classification, posing management challenges. Here, we present a case of a unique, reversible diabetes subtype.
We describe an adolescent African girl recently diagnosed with systemic lupus erythematosus. At age 15, she presented with ketoacidosis, HbA1c of 108.7 mmol/mol (12.1%), and positive anti-insulin antibodies. Initially diagnosed with type 1 diabetes, insulin was prescribed. Due to the presence of obesity and signs of insulin resistance, we added metformin. Concurrently, she received treatment for lupus with hydroxychloroquine, mycophenolate mofetil, and prednisone. After discharge, she stopped insulin due to cultural beliefs. Five months later, her glycemia and HbA1c normalized (37 mmol/mol or 5.5%) without insulin, despite corticosteroid therapy and weight gain. Autoantibodies normalized, and lupus activity decreased. Genetic testing for monogenic diabetes was negative, and the type 1 genetic risk score was exceptionally low.
We present a complex, reversible diabetes subtype. Features suggest an autoimmune origin, possibly influenced by overlapping HLA risk haplotypes with lupus. Lupus treatment or immunomodulation may have impacted diabetes remission. Ancestry-tailored genetic risk scores are currently designed to improve diagnostic accuracy.
青少年新发糖尿病包括 1 型糖尿病、2 型糖尿病、单基因糖尿病，以及在非洲人群中更为罕见的亚型，如 B 型胰岛素抵抗综合征和酮症倾向的非典型糖尿病。有些病例难以分类，给治疗带来了挑战。在这里，我们介绍一种独特的、可逆转的糖尿病亚型。
我们描述了一位最近被诊断为系统性红斑狼疮的非洲青少年女孩。她 15 岁时因酮症酸中毒、糖化血红蛋白 108.7mmol/mol（12.1%）和抗胰岛素抗体阳性而就诊。最初被诊断为 1 型糖尿病，给予胰岛素治疗。由于存在肥胖和胰岛素抵抗迹象，我们加用了二甲双胍。同时，她接受羟氯喹、霉酚酸酯和泼尼松治疗狼疮。出院后，由于文化信仰，她停止了胰岛素治疗。五个月后，尽管接受了皮质类固醇治疗和体重增加，她的血糖和糖化血红蛋白仍恢复正常（37mmol/mol 或 5.5%），无需胰岛素。自身抗体恢复正常，狼疮活动减少。单基因糖尿病的基因检测结果为阴性，1 型糖尿病的遗传风险评分极低。
我们提出了一种复杂的、可逆转的糖尿病亚型。这些特征提示可能与狼疮重叠的 HLA 风险单倍型有关，其发病机制可能与自身免疫有关。狼疮的治疗或免疫调节可能影响糖尿病的缓解。基于祖源的遗传风险评分目前旨在提高诊断准确性。
