Diabetes Research Group, Medizinische Klinik und Poliklinik IV, University of Munich Medical Centre, Munich.
Clinical Cooperation Group Type 2 Diabetes, Helmholtz Zentrum München, Neuherberg, Germany.
Diabet Med. 2017 Dec;34(12):1792-1794. doi: 10.1111/dme.13527.
Familial partial lipodystrophies are rare monogenic disorders that are often associated with diabetes. In such cases, it can be difficult to achieve glycaemic control.
We report a 34-year old woman with familial partial lipodystrophy type 2 (Dunnigan) and diabetes; her hyperglycaemia persisted despite metformin treatment. A combined intravenous glucose tolerance-euglycaemic clamp test showed severe insulin resistance, as expected, but also showed strongly diminished first-phase insulin secretion. After the latter finding, we added the glucagon-like peptide-1 receptor agonist liraglutide to the patient's treatment regimen, which rapidly normalized plasma glucose levels. HbA values <42 mmol/mol (6.0%) have now been maintained for over 4 years.
This case suggests that a glucagon-like peptide-1 receptor agonist may be a useful component of glucose-lowering therapy in individuals with familial partial lipodystrophy and diabetes mellitus.
家族性部分性脂肪营养不良是罕见的单基因疾病，常伴有糖尿病。在这种情况下，血糖控制可能很困难。
我们报告了一例 34 岁女性患有 2 型家族性部分性脂肪营养不良（邓恩格）和糖尿病；尽管使用二甲双胍治疗，她的高血糖仍持续存在。联合静脉葡萄糖耐量-正常血糖钳夹试验显示出严重的胰岛素抵抗，这是意料之中的，但也显示出第一相胰岛素分泌明显减少。在发现后者后，我们将胰高血糖素样肽-1 受体激动剂利拉鲁肽加入患者的治疗方案中，这迅速使血浆葡萄糖水平正常化。HbA 值<42mmol/mol（6.0%）现已维持超过 4 年。
本病例提示，胰高血糖素样肽-1 受体激动剂可能是伴有家族性部分性脂肪营养不良和糖尿病的个体降糖治疗的有用组成部分。
