Lipodystrophy syndrome caused by LMNA gene mutation is a group of autosomal dominant monogenic diseases, characterized by selective fat loss and metabolic abnormalities with insulin resistance. In this review, we summarize the clinical manifestations caused by multiple pathogenic LMNA mutations reported so far, including metabolic complications, cardiovascular abnormalities, gonadal axis disorders, myopathy, and renal abnormalities. Meanwhile, we also clarify the possible pathogenic mechanism, diagnosis, and treatment, in order to improve the understanding of the disease and to provide a reference for basic research and clinical diagnosis and treatment of this disease.
LMNA基因突变相关脂肪萎缩综合征(lipodystrophy syndrome)是一组由A型核纤层蛋白(lamin A/C, LMNA)基因突变引起的常染色体显性遗传单基因疾病,以选择性脂肪缺失伴胰岛素抵抗等代谢异常为特征。本文总结了目前已报道的可引起脂肪萎缩综合征的LMNA突变位点,及该突变位点导致的代谢并发症、心血管异常、性腺轴紊乱、肌病、肾脏异常等多种临床表现,阐述了LMNA基因致病性突变位点可能的致病机制及诊疗方法,以期为该疾病的基础研究和临床诊治提供参考。.
Keywords: LMNA gene mutation; insulin resistance; lipodystrophy syndrome; metabolic disorders; pathogenic mechanisms.