Reitman M L, Arioglu E, Gavrilova O, Taylor S I
Diabetes Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Building 10, Room 8N-250, 10 Center Drive, Bethesda, MD 20892-1770, USA.
Trends Endocrinol Metab. 2000 Dec;11(10):410-6. doi: 10.1016/s1043-2760(00)00309-x.
The lipoatrophy syndromes are a heterogeneous group of syndromes characterized by a paucity of adipose tissue. Severe lipoatrophy is associated with insulin-resistant diabetes mellitus (DM). The loss of adipose tissue can have a genetic, immune, or infectious/drug-associated etiology. Causative mutations have been identified in patients for one form of partial lipoatrophy--Dunnigan-type familial partial lipodystrophy. Experiments using lipoatrophic mice demonstrate that the diabetes results from the lack of fat and that leptin deficiency is a contributing factor. Thiazolidinedione therapy improves metabolic control in lipoatrophic patients; the efficacy of leptin treatment is currently being investigated.
脂肪萎缩综合征是一组异质性综合征，其特征为脂肪组织缺乏。严重脂肪萎缩与胰岛素抵抗型糖尿病（DM）相关。脂肪组织的丧失可能有遗传、免疫或感染/药物相关的病因。已在部分脂肪萎缩的一种形式——邓尼根型家族性部分脂肪营养不良患者中鉴定出致病突变。使用脂肪萎缩小鼠的实验表明，糖尿病是由脂肪缺乏导致的，且瘦素缺乏是一个促成因素。噻唑烷二酮疗法可改善脂肪萎缩患者的代谢控制；目前正在研究瘦素治疗的疗效。
