The renal manifestations of type 4 familial partial lipodystrophy: a case report and review of literature.

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第一作者： Ru-Xuan,Chen

第一单位： Department of Internal Medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, China.

作者： Ru-Xuan,Chen ^[1] ; Lei,Zhang ^[2] ; Wei,Ye ^[2] ; Yu-Bing,Wen ^[2] ; Nuo,Si ^[3] ; Hang,Li ^[2] ; Ming-Xi,Li ^[2] ; Xue-Mei,Li ^[2] ; Ke,Zheng ^[4]

作者单位： Department of Internal Medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, China. ^[1] Department of Nephrology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, China. ^[2] McKusick-Zhang Center for Genetic Medicine, State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and School of Basic Medicine Peking Union Medical College, Beijing, China. ^[3] Department of Nephrology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, China. kellyz_0_67@163.com. ^[4] Present address: Peking Union Medical College Hospital (East), No. 1 Shuaifuyuan, Dongcheng District, Beijing, 100730, China. kellyz_0_67@163.com. ^[5]

关键词 Familial partial lipodystrophy Focal segmental glomerulosclerosis PLIN1 Proteinuria

主题词青少年(Adolescent);女(雌)性(Female);移码突变(Frameshift Mutation);人类(Humans);胰岛素抗药性(Insulin Resistance);脂质营养不良, 家族性局部性(Lipodystrophy, Familial Partial);蛋白尿(Proteinuria)

DOI 10.1186/s12882-018-0913-6

PMID 29747582

发布时间 2019-05-27

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