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Lipodystrophysyndromes1
definitionandclassificationClinicalFindingsoftheMajorLipodystrophySubtypesClinicalCharacteristicsstructureDiagnosisTherapies2
definitionandClassification3
Aheterogeneousgroupofcongenitaloracquireddisorderscharacterizedbyeithercompleteorpartiallackofadiposetissue，whichmayoccurinconjunctionwithpathologicalaccumulationoffatinotherdistinctregionsofthebody，Belongedtotheautonomicnervoussystemdiseasesdefinition4
classificationcongenitalgeneralizedlipodystrophy(CGL)acquiredgeneralizedlipodystrophy(AGL)acquiredpartiallipodystrophy(APL)familialpartiallipodystrophy(FPL)HAART-associatedlipodystrophysyndrome5
CGL(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(withinthefirstyearoflife),andisaccompaniedbyprominentmuscularityandsubcutaneousveins.CongenitalGeneralizedLipodystrophy6
Inearlychildhood,patientswithCGLmayexhibithyperphagia食欲过盛(possiblyamanifestationofunderlyingleptindeficiency),acceleratedlineargrowth,advancedboneage骨龄超前,oracromegaloidfeatures(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.CongenitalGeneralizedLipodystrophy7
Hepatomegalyfromseverehepaticsteatosisiscommonandcanprogresstosteatohepatitis脂肪性肝炎,cirrhosis,andliverfailure.femaleswithCGLmayhavehirsutism,clitoromegaly,irregularmenstrualperiods,polycysticovaries,and/orinfertility.Thereareatleastthreekindsofdisease-causinggenes,clinicallydividedintothreesubtypes:CGL1,CGL2,CGL3.95%ofCGLforthefirsttwosubtyp
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