AGPAT2基因复合杂合突变导致全身性脂肪营养不良1型一例并文献复习  

Generalized lipodystrophy type 1 due to compound heterozygous mutation of AGPAT2 gene: One case report and literature review

作　　者：张娟[1] 章钟允 李浩榕 陈煦阳 韩如来 叶蕾[1] 蒋怡然[1] 陆洁莉[1] 周瑜琳[1] 王卫庆[1] 顾卫琼[1] Zhang Juan;Zhang Zhongyun;Li Haorong;Chen Xuyang;Han Rulai;Ye Lei;Jiang Yiran;Lu Jieli;Zhou Yulin;Wang Weiqing;Gu Weiqiong(National Clinical Research Center for Metabolic Diseases,Shanghai Institute of Endocrine and Metabolic Diseases,Department of Endocrine and Metabolic Diseases,Ruijin Hospital,Shanghai Jiaotong University School of Medicine,Shanghai 200025,China)

机构地区：[1]上海交通大学医学院附属瑞金医院内分泌代谢病科,上海市内分泌代谢病研究所,国家代谢性疾病临床医学研究中心,200025

出　　处：《中华内分泌代谢杂志》2021年第9期840-844,共5页Chinese Journal of Endocrinology and Metabolism

摘　　要：先天性全身性脂肪营养不良1型(congenital generalized lipodystrophy type 1,CGL1)是由AGPAT2基因异常导致的常染色体隐性遗传疾病,主要临床表现为全身皮下脂肪消失、肌肉发达、皮下静脉明显、假性肢端肥大症、多毛、黑棘皮症等,常合并代谢性疾病,易被误诊为代谢综合征、2型糖尿病、多囊卵巢综合征、肢端肥大症及库欣综合征等。同时,与部分脂肪萎缩综合征的鉴别在临床上存在难度。本研究回顾分析1例CGL1患者的临床和遗传特征,并结合国内外文献进行分析总结,从而有助于加深对该罕见疾病的认识。Congenital generalized lipodystrophy type 1(CGL1)is an autosomal recessive genetic disease caused by mutations in AGPAT2 gene.The main clinical mainifestations include body subcutaneous fat loss,muscle hypertrophy,obvious subcutaneous veins,pseudoacromegaly,hirsutism,and acanthosis nigricans.What′s more,CGL1 is always accompanied by metabolic diseases.Therefore,it is easily misdiagnosed as metabolic syndrome,type 2 diabetes,polycystic ovary syndrome,acromegaly,or Cushing′s syndrome.Meanwhile,it is difficult to distinguish it from partial lipoatrophy syndrome.In this article,we present clinical and molecular characteristics of a patient with CGL1 and review mutations reported in literature to replenish current knowledge about this orphan disease.

关 键 词：全身性脂肪营养不良1型 AGPAT2基因 基因诊断 脂代谢异常 

分 类 号：R596.1[医药卫生—内科学]