Clinical characteristics and efficacy of pioglitazone in a Japanese diabetic patient with an unusual type of familial partial lipodystrophy
Clinical characteristics and efficacy of pioglitazone in a Japanese diabetic patient with an unusual type of familial partial lipodystrophy
复制标题
DOI：
10.1016/j.metabol.2009.04.043
复制
发表时间：
2009-12-01
影响因子：
9.8
通讯作者：
Nakao, Kazuwa
中科院分区：
文献类型：
--
作者：
Iwanishi, Masanori;Ebihara, Ken;Nakao, Kazuwa
本报告描述了一个46岁的日本糖尿病妇女与一个不寻常的类型的家族性部分脂肪代谢障碍。她下肢和臀部的皮下脂肪明显减少，面部、颈部、上肢和躯干保留。与以前的报告相比，这种脂肪萎缩的分布似乎是罕见的。已知与家族性部分脂肪营养不良相关的候选基因LMNA、PPARG、AKT 2、caveolin-1以及PPARG 4启动子基因的测序显示没有遗传异常，这表明该病例可能涉及一种新基因。在该病例中，吡格列酮对血糖控制显著有效。尽管每日胰岛素总剂量为30 U，并联合使用10 mg格列本脲和0.6 mg伏格列波糖治疗，但她的糖尿病仍未得到控制。因此，我们尝试了30 mg吡格列酮和30 U/d胰岛素注射液的联合治疗。治疗6个月后，血红蛋白A，c水平从11.2%降至6.1%，此后一直保持稳定。治疗12个月后，她的体重从62.0 kg增加至71.0 kg，表明体重增加可能是噻唑烷二酮类药物和胰岛素促进脂肪生成之间的协同作用所致。吡格列酮增加了上肢和躯干的脂肪量，而下肢的脂肪量增加较少，该患者存在脂肪萎缩。因此，吡格列酮可能通过主要在上肢和躯干中的祖细胞向脂肪细胞分化来改善这种情况下的血糖控制。(C)2009年由Elsevier Inc.出版
This report describes a 46-year-old Japanese diabetic woman with an unusual type of familial partial lipodystrophy. She has marked loss of subcutaneous fat in her lower limbs and buttocks, with sparing of the face, neck, upper limbs, and trunk. This distribution of fat atrophy appears to be rare in comparison with previous reports. Sequencing of candidate genes LMNA, PPARG, AKT2, caveolin-1, as well as the PPARG4 promoter gene, which are known to be associated with familial partial lipodystrophy, revealed no genetic abnormalities, suggesting that this case may involve a novel gene. Pioglitazone was markedly effective in glycemic control in this case. Her diabetes remained uncontrolled despite a total daily dose of insulin of 30 U and combined treatment with 10 mg of glibenclamide and 0.6 mg of voglibose. We therefore attempted combined treatment with 30 mg of pioglitazone and 30 U/d insulin injection. The hemoglobin A,c level was reduced from 11.2% to 6.1% after 6 months of treatment and has since remained stable. Her body weight increased from 62.0 to 71.0 kg after 12 months of treatment, suggesting that weight gain may result from synergism between thiazolidinediones and insulin-promoting adipogenesis. Pioglitazone increased the fat mass in the upper limbs and trunk, while inducing less increase in the lower limbs, where fat atrophy exists in this patient. Pioglitazone may thus have improved the glycemic control in this case through adipocyte differentiation from progenitor cells mainly in the upper limbs and trunk. (C) 2009 Published by Elsevier Inc.