Chaves Carolina, Chaves Mariana, Anselmo João, César Rui
Serviço de Endocrinologia e NutriçãoHospital Divino Espírito Santo de Ponta Delgada, Ponta Delgada, Açores, Portugal.
Serviço de RadiologiaHospital Divino Espírito Santo de Ponta Delgada, Ponta Delgada, Açores, Portugal.
Endocrinol Diabetes Metab Case Rep. 2021 Apr 1;2021. doi: 10.1530/EDM-20-0183.
Berardinelli-Seip congenital lipodystrophy (BSCL) is a rare autosomal recessive disease, characterized by the absence of subcutaneous adipose tissue, leptin deficiency and severe metabolic complications, such as insulin resistance, diabetes mellitus, and dyslipidemia. The most common mutation occurs in BCSL2 which encodes seipin, a protein involved in adipogenesis. We report a patient with BSCL who was diagnosed with diabetes at 11 years old. He was started on metformin 1000 mg twice daily, which lowered glycated hemoglobin (HbA1c) to less than 7%. Four months later, HbA1c raised above 7.5%, indicating secondary failure to metformin. Therefore, we added the peroxisome proliferator-activated receptor-gamma (PPARG) agonist, pioglitazone. Since then and for the last 5 years his HbA1c has been within the normal range. These findings indicate that pioglitazone should be considered as a valid alternative in the treatment of diabetes in BSCL patients. To the best of our knowledge, this is the first specific report of successful long-term treatment with pioglitazone in a patient with BSCL.
Berardinelli-Seip congenital lipodystrophy (BSCL) is a recessive genetic disorder associated with severe insulin resistance and early onset diabetes, usually around puberty. Failure of oral antidiabetic medication occurs within the first years of treatment in BSCL patients. When failure to achieve metabolic control with metformin occurs, pioglitazone may be a safe option, lowering insulin resistance and improving both the metabolic control and lipodystrophic phenotype. Herein we show that pioglitazone can be a safe and efficient alternative in the long-term treatment of BSCL patients with diabetes.
贝拉尔迪内利-塞普先天性脂肪营养不良（BSCL）是一种罕见的常染色体隐性疾病，其特征为缺乏皮下脂肪组织、瘦素缺乏以及严重的代谢并发症，如胰岛素抵抗、糖尿病和血脂异常。最常见的突变发生在编码seipin的BCSL2基因中，seipin是一种参与脂肪生成的蛋白质。我们报告了一名11岁被诊断为糖尿病的BSCL患者。他开始每日两次服用1000毫克二甲双胍，糖化血红蛋白（HbA1c）降至7%以下。四个月后，HbA1c升至7.5%以上，表明对二甲双胍继发失效。因此，我们加用了过氧化物酶体增殖物激活受体γ（PPARG）激动剂吡格列酮。从那时起的5年里，他的HbA1c一直处于正常范围内。这些发现表明，吡格列酮应被视为治疗BSCL患者糖尿病的有效替代药物。据我们所知，这是第一份关于吡格列酮成功长期治疗一名BSCL患者的具体报告。
贝拉尔迪内利-塞普先天性脂肪营养不良（BSCL）是一种隐性遗传疾病，与严重胰岛素抵抗和通常在青春期左右的早发性糖尿病相关。口服抗糖尿病药物在BSCL患者治疗的头几年内会失效。当二甲双胍无法实现代谢控制时，吡格列酮可能是一个安全的选择，可降低胰岛素抵抗并改善代谢控制和脂肪营养不良表型。在此我们表明，吡格列酮在长期治疗患有糖尿病的BSCL患者中可以是一种安全有效的替代药物。
