Capeau Jacqueline, Vigouroux Corinne, Magré Jocelyne, Lascols Olivier, Caron Martine, Bastard Jean-Philippe
Inserm, U680, université Pierre-et-Marie-Curie, site Saint-Antoine, faculté de médecine, 27, rue Chaligny, 75571 Paris cedex 12, France.
C R Biol. 2006 Aug;329(8):639-52; discussion 653-5. doi: 10.1016/j.crvi.2005.11.008. Epub 2006 Apr 27.
Lipodystrophic syndromes regroup a heterogeneous group of genetic or acquired diseases. Lipodystrophy, an altered development and/or repartition of body fat, is associated with alterations of lipid and glucose metabolism with insulin resistance. Genetic forms, rare, can be generalized and recessive resulting from mutations in the seipin or AGPAT2 gene. Partial lipodystrophies are dominant and observed in patients mutated in the gene encoding PPAR-gamma or lamin A/C, a gene seen also mutated in patients with syndromes of premature aging. Acquired forms are common and regroup the highly prevalent Metabolic Syndrome, hypercorticism together with lipodystrophy related to antiretroviral treatment of HIV-infected patients.
脂肪营养不良综合征是一组由遗传或后天因素导致的多种疾病。脂肪营养不良是指身体脂肪发育和/或分布异常,与脂质和葡萄糖代谢改变以及胰岛素抵抗有关。遗传性脂肪营养不良较为罕见,可为全身性且呈隐性遗传,由seipin或AGPAT2基因突变引起。部分脂肪营养不良呈显性遗传,在编码PPAR-γ或核纤层蛋白A/C的基因突变患者中可见,该基因在早衰综合征患者中也有突变。后天性脂肪营养不良较为常见,包括高度流行的代谢综合征、皮质醇增多症以及与HIV感染患者抗逆转录病毒治疗相关的脂肪营养不良。