Agarwal Anil K, Garg Abhimanyu
Division of Nutrition and Metabolic Diseases, Department of Internal Medicine and the Center for Human Nutrition, The University of Texas Southwestern Medical Center at Dallas, Dallas, Texas 75390-9052, USA.
Annu Rev Med. 2006;57:297-311. doi: 10.1146/annurev.med.57.022605.114424.
Selective loss of body fat is the hallmark of patients with lipodystrophies. Among genetic lipodystrophies, fat loss is observed either from birth, as in congenital generalized lipodystrophy, or later in life, as in familial partial lipodystrophy. The extent of fat loss also varies among subtypes of lipodystrophies. Patients develop hyperinsulinemia, acanthosis nigricans, hypertriglyceridemia, diabetes mellitus, and hepatic steatosis. Defects in several genes, such as those encoding an enzyme (AGPAT2), a nuclear receptor (PPARgamma), a nuclear lamina protein (LMNA) and its processing endoprotease (ZMPSTE24), a kinase (AKT2), and a protein of unknown function (BSCL2), have been found in patients with genetic lipodystrophies. Additional loci remain to be discovered. We discuss features of autosomal recessive and dominant types of lipodystrophies and therapeutic interventions available for these patients.
身体脂肪的选择性丢失是脂肪营养不良患者的标志。在遗传性脂肪营养不良中，脂肪丢失要么从出生就开始，如先天性全身性脂肪营养不良，要么在生命后期出现，如家族性部分脂肪营养不良。脂肪丢失的程度在脂肪营养不良的不同亚型中也有所不同。患者会出现高胰岛素血症、黑棘皮病、高甘油三酯血症、糖尿病和肝脂肪变性。在遗传性脂肪营养不良患者中发现了几个基因的缺陷，例如编码一种酶（AGPAT2）、一种核受体（PPARγ）、一种核纤层蛋白（LMNA）及其加工内蛋白酶（ZMPSTE24）、一种激酶（AKT2）和一种功能未知的蛋白质（BSCL2）的基因。其他基因座仍有待发现。我们讨论了常染色体隐性和显性脂肪营养不良类型的特征以及针对这些患者的治疗干预措施。
