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1、LipodystrophysyndromesdefinitionandclassificationClinicalFindingsoftheMajorLipodystrophySubtypesClinicalCharacteristicsstructureDiagnosisTherapiesdefinitionandClassificationAheterogeneousgroupofcongenitaloracquireddisorderscharacterizedbyeithercompleteorpartiallackofad
2、iposetissue，whichmayoccurinconjunctionwithpathologicalaccumulationoffatinotherdistinctregionsofthebody，Belongedtotheautonomicnervoussystemdiseasesdefinition4classificationcongenitalgeneralizedlipodystrophy(CGL)acquiredgeneralizedlipodystrophy(AGL)acquiredpartiallipodys
3、trophy(APL)familialpartiallipodystrophy(FPL)HAART-associatedlipodystrophysyndromeCGL(先天性全身脂肪营养不良),orBerardinelli-Seipsyndrome（伯拉迪尼-塞普综合征）,isanautosomalrecessive常染色体隐性遗传disordercharacterizedbyageneralizedlackofadiposetissueatbirthorshortlythereafter(withinthefirstyearof
4、life),andisaccompaniedbyprominentmuscularityandsubcutaneousveins.CongenitalGeneralizedLipodystrophy6Inearlychildhood,patientswithCGLmayexhibithyperphagia食欲过盛(possiblyamanifestationofunderlyingleptindeficiency),acceleratedlineargrowth,advancedboneage骨龄超前,oracromegaloidf
5、eatures(enlargedhands,feet,andmandible),whilelaterinchildhood,acanthosisnigricans黑棘皮症candevelopandbecomewidespread.Hyperinsulinemiaandhypertriglyceridemia高胰岛素血症和高甘油三酯血症canoccuratanearlyage,withketosis-resistantdiabetesmellitus酮症性糖尿病usuallydevelopinglaterinadolescence.C
6、ongenitalGeneralizedLipodystrophy7Hepatomegalyfromseverehepaticsteatosisiscommonandcanprogresstosteatohepatitis脂肪性肝炎,cirrhosis,andliverfailure.femaleswithCGLmayhavehirsutism,clitoromegaly,irregularmenstrualperiods,polycysticovaries,and/orinfertility.Thereareatleastthre
7、ekindsofdisease-causinggenes,clinicallydividedintothreesubtypes:CGL1,CGL2,CGL3.95%ofCGLforthefirsttwosubtypes,andmutationsassociated基因突变AGPAT2andBSCL2.CongenitalGeneralizedLipodystrophy8CongenitalGeneralizedLipodystrophyCongenitalgeneralizedlipodystrophyinA,a6-month-ol
8、dinfantwithpromi-nentmuscularityandveins,B,a16-year-oldgirlwithacanthosisnigricansandumbilicalprominence,C,a15-year-o
