Peroxisome proliferator-activated receptor gamma mutation in familial partial lipodystrophy type three:A case report and review of literature  

作　　者：Chao-Jun Wu Hao Liu Li-Juan Tu Jiong-Yu Hu 

机构地区：[1]Basic Medical College,Army Medical University,Chongqing 400038,China [2]Department of Endocrinology,Rare Disease Center,The First Affiliated Hospital of Army Medical University,Chongqing 400038,China

出　　处：《World Journal of Diabetes》2024年第12期2360-2369,共10页世界糖尿病杂志（英文）

摘　　要：BACKGROUND Familial partial lipodystrophy disease(FPLD)is a collection of rare genetic diseases featuring partial loss of adipose tissue.However,metabolic difficulties,such as severe insulin resistance,diabetes,hypertriglyceridemia,and hyperte-nsion frequently occur alongside adipose tissue loss,making it susceptible misdiagnosis and delaying effective treatment.Numerous genes are implicated the occurrence of FPLD,and genetic testing has been for conditions linked single gene mutation related to FPLD.Reviewing recent reports,treatment of the disease is limited to preventing and improving complications in patients.In 2017,a 31-year-old woman with diabetes,hypertension and hypertriglyceri-demia was hospitalized.We identified a mutation in her peroxisome proliferator-activated receptor gamma(PPARG)gene,Y151C(p.Tyr151Cys),which results in a nucleotide substitution residue 452 in the DNA-binding domain(DBD)of PPARG.The unaffected family member did not carry this mutation.Pioglitazone,a PPARG agonist,improved the patient’s responsiveness to hypoglycemic and antihyper-tensive therapy.After one year of treatment in our hospital,the fasting blood glucose and glycosylated hemoglobin of the patient were close to normal.

关 键 词：Familial partial lipodystrophy Peroxisome proliferator-activated receptor gamma Tyr151Cys Phenotypic he-terogeneity Case report 

分 类 号：R587.1[医药卫生—内分泌]