[1] Chan J L, Oral E A. Clinical classification and treatment of congenital and acquired lipodystrophy[J]. Endocr Pract, 2010,16(2):310-323.[2] Mallewa J E, Wilkins E, Vilar J, et al. HIV-associated lipodystrophy: a review of underlying mechanisms and therapeutic options[J]. J Antimicrob Chemother, 2008,62(4):648-660.[3] Piloya T, Bakeera-Kitaka S, Kekitiinwa A, et al. Lipodystrophy among HIV-infected children and adolescents on highly active antiretroviral therapy in Uganda: a cross sectional study[J]. J Int AIDS Soc, 2012,15(2):17427.[4] Berardinelli W. An undiagnosed endocrinometabolic syndrome: report of 2 cases[J]. J Clin Endocrinol Metab, 1954,14(2):193-204.[5] Seip M. Lipodystrophy and gigantism with associated endocrine manifestations. A new diencephalic syndrome?[J]. Acta Paediatr, 1959,48:555-574.[6] Garg A, Misra A. Lipodystrophies: rare disorders causing metabolic syndrome[J]. Endocrinol Metab Clin North Am, 2004,33(2):305-331.[7] Garg A, Wilson R, Barnes R, et al. A gene for congenital generalized lipodystrophy maps to human chromosome 9q34[J]. J Clin Endocrinol Metab, 1999,84(9):3390-3394.[8] Magré J, Delépine M, Khallouf E, et al. Identification of the gene altered in Berard in elli-Seip congenital lipodystrophy on chromosome 11q13[J]. Nat Genet, 2001,28(4):365-370.[9] Kim C A, Delépine M, Boutet E, et al. Association of a homozygous nonsense caveolin-1 mutation with Berardinelli-Seip congenital lipodystrophy[J]. J Clin Endocrinol Metab, 2008,93(4):1129-1134.[10] Chandalia M, Garg A, Vuitch F, et al. Postmortem findings in congenital generalized lipodystrophy[J]. J Clin Endocrinol Metab, 1995,80(10):3077-3081.[11] Pardini V C, Victória I M, Rocha S M, et al. Leptin levels, beta-cell function, and insulin sensitivity in families with congenital and acquired generalized lipoatropic diabetes[J]. J Clin Endocrinol Metab, 1998,83(2):503-508.[12] Lawrence R D. Lipodystrophy and hepatomegaly, with diabetes, lipaemia, and other metabolic disturbances; a case throwing new light on the action of insulin[J]. Lancet, 1946,1(6403):724.[13] Misra A, Garg A. Clinical features and metabolic derangements in acquired generalized lipodystrophy: case reports and review of the literature[J]. Medicine(Baltimore), 2003,82(2):129-146.[14] Hübler A, Abendroth K, Keiner T, et al. Dysregulation of insulin-like growth factors in a case of generalized acquired lipoatrophic diabetes mellitus(Lawrence Syndrome) connected with autoantibodies against adipocyte membranes[J]. Exp Clin Endocrinol Diabetes, 1998,106:79.[15] Herbst K L, Tannock L R, Deeb S S, et al. Köbberling type of familial partial lipodystrophy: an underrecognized syndrome[J]. Diabetes Care, 2003,26(6):1819-1824.[16] Agarwal A K, Garg A. A novel heterozygous mutation in peroxisome proliferator-activated receptor-gamma gene in a patient with familial partial lipodystrophy[J]. J Clin Endocrinol Metab, 2002,87(1):408-411.[17] Peters J M, Barnes R, Bennett L, et al. Localization of the gene for familial partial lipodystrophy(Dunnigan variety) to chromosome 1q21-22[J]. Nat Genet, 1998,18(3):292-295.[18] Garg A. Acquired and inherited lipodystrophies[J]. N Engl J Med, 2004,350(12):1220-1234.[19] Garg A. Gender differences in the prevalence of metabolic complications in familial partiallipo dystrophy(Dunnigan variety)[J]. J Clin Endocrinol Metab, 2000,85(5):1776-1782.[20] Vantyghem M C, Vincent-Desplanques D, Defrance-Faivre F, et al. Fertility and obstetrical complications in women with LMNA-related familial partial lipodystrophy[J]. J Clin Endocrinol Metab, 2008,93(6):2223-2229.[21] Spuler S, Kalbhenn T, Zabojszcza J, et al. Muscle and nerve pathology in Dunnigan familial partial lipodystrophy[J]. Neurology, 2007,68(9):677-683.[22] Hegele R A, Cao H, Liu D M, et al. Sequencing of the reannotated LMNB2 gene reveals novel mutations in patients with acquired partial lipodystrophy[J]. Am J Hum Genet, 2006,79(2):383-389.[23] George S, Rochford J J, Wolfrum C, et al. A family with severe insulin resistance and diabetes due to a mutation in AKT2[J]. Science, 2004,304(5675):1325-1328.[24] Cao H, Alston L, Ruschman J, et al. Heterozygous CAV1 frameshift mutations(MIM 601047) in patients with atypical partial lipodystrophy and hypertriglyceridemia[J]. Lipids Health Dis, 2008, 7:3.[25] Simha V, Agarwal A K, Oral E A, et al. Genetic and phenotypic heterogeneity in patients with mandibuloacral dysplasia-associated lipodystrophy[J]. J Clin Endocrinol Metab, 2003,88(6):2821-2824.[26] Novelli G, Muchir A, Sangiuolo F, et al. Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C[J]. Am J Hum Genet, 2002,71(2):426-431.[27] Agarwal A K, Fryns J P, Auchus R J, et al. Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia[J]. Hum Mol Genet, 2003,12(16):1995-2001.[28] Jackson S N, Pinkney J, Bargiotta A, et al. A defect in the regional deposition of adipose tissue(partial lipodystrophy) is encoded by a gene at chromosome 1q[J]. Am J Hum Genet, 1998,63(2):534-540.[29] Agarwal A K, Zhou X J, Hall R K, et al. Focal segmental glomerulosclerosis in patients with mandibuloacral dysplasia owing to ZMPSTE24 deficiency[J]. J Investig Med, 2006,54(4):208-213.[30] Barraquer L. Pathogenesis of progressive cephalothoracic lipodystrophy: Barraquer’ s disease[J]. J Nerv Ment Dis, 1949,109(2):113-121.[31] Peters D K, Charlesworth J A, Sissons J G, et al. Mesangiocapillary nephritis, partial lipodystrophy, and hypocomplementaemia[J]. Lancet, 1973,2(7828):535-538.[32] Sissons J G, West R J, Fallows J, et al. The complement abnormalities of lipodystrophy[J]. N Engl J Med, 1976,294(9):461-465.[33] Misra A, Peethambaram A, Garg A. Clinical features and metabolic and autoimmune derangements in acquired partial lipodystrophy: report of 35 cases and review of the literature[J]. Medicine(Baltimore), 2004,83(1):18-34.[34] Mallewa J E, Wilkins E, Vilar J, et al. HIV-associated lipodystrophy: a review of underlying mechanisms and therapeutic options[J]. J Antimicrob Chemother, 2008,62(4):648-660.[35] Villarroya F, Domingo P, Giralt M. Drug-induced lipotoxicity: lipodystrophy associated with HIV-1 infection and antiretroviral treatment[J]. Biochim Biophys Acta, 2010,1801(3):392-399.[36] Kotler D P, Hepatitis C, human immunodeficiency virus and metabolic syndrome: interactions[J]. Liver Int, 2009,29(suppl 2):38-46.[37] Chandra S, Mondal D, Agrawal K C. HIV-1 protease inhibitor induced oxidative stress suppresses glucose stimulated insulin release: protection with thymoquinone[J]. Exp Biol Med(maywood), 2009,234(4):442-453.[38] Shrivastav S, Kino T, Cunningham T, et al. Human immunodeficiency virus(HIV)-1 viral protein R suppresses transcriptional activity of peroxisome proliferator-activated receptor gamma and inhibits adipocyte differentiation: implications for HIV-associated lipodystrophy[J]. Mol Endocrinol, 2008,22(2):234-247.[39] Imamura S, Yamada M, Ikeda T. Lipodystrophia centrifugalis abdominalis infantifis[J]. Arch Dermatol, 1971,104(3):291-298.[40] Tsiodras S, Poulia K A, Yannakoulia M, et al. Adherence to Mediterranean diet is favorably associated with metabolic parameters in HIV-positive patients with the highly active antiretroviral therapy-induced metabolic syndrome and lipodystrophy[J]. Metabolism, 2009,58(6):854-859.[41] Gavrila A, Tsiodras S, Doweiko J, et al. Exercise and vitamin E intake are independently associated with metabolic abnormalities in human immunodeficiency virus-positive subjects: a cross-sectional study[J]. Clin Infect Dis, 2003,36(12):1593-1601.[42] Leyes P, Martinez E, Forga Mde T. Use of diet, nutritional supplements and exercise in HIV-infected patients receiving combination antiretroviral therapies: a systematic review[J]. Antivir Ther, 2008,13(2):149-159.[43] Hadigan C, Corcoran C, Basgoz N, et al. Metformin in the treatment of HIV lipodystrophy syndrome-A randomized controlled trial[J]. JAMA, 2000,284(4):472-477.[44] Moreau F, Boullu-Sanchis S, Vigouroux C,et al. Efficacy of pioglitazone in familial partial lipodystrophy of the Dunnigan type: a case report[J]. Diabetes Metab, 2007,33(5):385-389.[45] Gambineri A, Semple R K, Forlani G, et al. Monogenic polycystic ovary syndrome due to a mutation in the lamin A/C gene is sensitive to thiazolidinediones but not to metformin[J]. Eur J Endocrinol, 2008,159(3):347-353.[46] Simha V, Rao S, Garg A. Prolonged thiazolidinedione therapy does not reverse fat loss in patients with familial partial lipodystrophy, Dunnigan variety[J]. Diabetes Obes Metab, 2008,10(12):1275-1276.[47] Raboud J M, Diong C, Carr A, et al. A meta-analysis of six placebo-controlled trials of thiazolidinedione therapy for HIV lipoatrophy[J]. HIV Clin Trials, 2010,11(1):39-50.[48] Gavrila A, Hsu W, Tsiodras S, et al. Improvement in highly active antiretroviral therapy-induced metabolic syndromeby treatment with pioglitazone but not with fenofibrate: A2×2 factorial, randomized, doubleblinded, placebo-controlled trial[J]. Clin Infect Dis, 2005,40(5):745-749.[49] Slama L, Lanoy E, Valantin M A, et al. Effect of pioglitazone on HIV-1-related lipodystrophy: a randomized double-blind placebo-controlled trial(ANRS 113)[J]. Antivir Ther, 2008,13(1):67-76.[50] Misra A, Garg A. Clinical features and metabolic derangements in acquired generalized lipodystrophy-Case reports and review of the literature[J]. Medicine(Baltimore), 2003,82(2):129-146.[51] Fichtenbaum C J, Gerber J G, Rosenkranz S L, et al. Pharmacokinetic interactions between protease inhibitors and statins in HIV seronegative volunteers: ACTG Study A5047[J]. AIDS, 2002,16(4):569-577.[52] Aberg J A, Rosenkranz S L, Fichtenbaum C J, et al. Pharmacokinetic interaction between nelfinavir and pravastatin in HIVseronegative volunteers: ACTG study A5108[J]. AIDS, 2006,20(5):725-729.[53] Gerber J G, Rosenkranz S L, Fichtenbaum C J, et al. Effect of efavirenz on the pharmacokinetics of simvastatin, atorvastatin, and pravastatin: results of AIDS Clinical Trials Group 5108 Study[J]. J Acquir Immune Defic Syndr, 2005,39(3):307-312.[54] Rao A, D’ Amico S, Balasubramanyam A, et al. Fenofibrate is effective in treating hypertriglyceridemia associated with HIV lipodystrophy[J]. Am J Med Sci, 2004,327(6):315-318.[55] Wu J, Song Y, Li H, et al. Rhabdomyolysis associated with fibrate therapy: review of 76 published cases and a new case report[J]. Eur J Clin Pharmacol, 2009,65(12):1169-1174.[56] Hadigan C, Liebau J, Torriani M, et al. Improved triglycerides and insulin sensitivity with 3 months of acipimox in human immunodeficiency virus-infected patients with hypertriglyceridemia[J]. J Clin Endocrinol Metab, 2006,91(11):4438-4444.[57] Coll B, Aragones G, Parra S, et al. Ezetimibe effectively decreases LDL-cholesterol in HIV-infected patients[J]. AIDS, 2006,20(12):1675-1677.[58] Wanke C, Gerrior J, Kantaros J, et al. Recombinant human growth hormone improves the fat redistribution syndrome(lipodystrophy) in patients with HIV[J]. AIDS, 1999,13(15):2099-2103.[59] Bickel M, Zangos S, Jacobi V, et al. A randomized, open-label study to compare the effects of two different doses of recombinant human growth hormone on fat reduction and fasting metabolic parameters in HIV-1-infected patients with lipodystrophy[J]. HIV Med, 2006,7(6):397-403.[60] Falutz J, Allas S, Kotler D, et al. A placebo-controlled, dose-ranging study of a growth hormone releasing factor in HIV-infected patients with abdominal fat accumulation[J]. Aids, 2005,19(12):1279-1287.[61] Falutz J, Allas S, Blot K, et al. Metabolic effects of a growth hormone-releasing factor in patients with HIV[J]. N Engl J Med, 2007,357(23):2359-2370.[62] Brown T T. Approach to the human immunodeficiency virus-infected patient with lipodystrophy[J]. J Clin Endocrinol Metab, 2008,93(8):2937-2945.[63] Coope A, Milanski M, Araújo E P, et al. AdipoR1 mediates the anorexigenic and insulin/leptin-like actions of adiponectin in the hypothalamus[J]. FEBS Lett, 2008,582(10):1471-1476.[64] Yamauchi T, Kamon J, Waki H, et al. The fat-derived hormone adiponectin reverses insulin resistance associated with both lipoatrophy and obesity[J]. Nat Med, 2001,7(8):941-946.[65] Chong A Y, Lupsa B C, Cochran E K, et al. Efficacy of leptin therapy in the different forms of human lipodystrophy[J]. Diabetologia, 2010,53(1):27-35.[66] Musso C, Cochran E, Javor E, et al. The long-term effect of recombinant methionyl human leptin therapy on hyperandrogenism and menstrual function in female and pituitary function in male and female hypoleptinemic lipodystrophic patients[J]. Metabolism, 2005,54(2):255-263. |