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青春期起病的全身性脂肪萎缩病二例及其分子病因分析 被引量:3

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摘要 例1患者女,17岁。早产1个月,出生后外貌正常,自12岁起出现消瘦、全身皮肤色素沉着,以颈部、腋窝、腹股沟为承,面部、四肢、躯干、臀部、掌心、足底皮下脂肪缺失。家族中无类似疾病及自身免疫性疾病,同胞姐姐无类似表现.体检:体形消瘦,眼球稍突出,鸟嘴样鼻子,牙列不齐,粗测听力下降。乳房萎缩,腹部稍膨隆,四肢肌肉萎缩,关节僵硬,双下肢汗毛增多,轻度凹陷性水肿,无阴毛、腋毛。
出处 《中华内科杂志》 CAS CSCD 北大核心 2013年第8期679-680,共2页 Chinese Journal of Internal Medicine
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参考文献9

  • 1吕宏军,郭辉,施秉银,赵菁.Barraquer-Simons综合征病因、诊断及治疗新进展[J].中华内科杂志,2011,50(8):701-703. 被引量:1
  • 2Garg A. Lipodystrophies: genetic and acquired body fatdisorders. J Clin Endocrinol Metab,2011 ,96 : 3313-3325.
  • 3Garg A. Acquired and inherited lipodystrophies. N Engl J Med,2004,350: 1220-1234.
  • 4Agarwal AK, Garg A. Genetic disorders of adipose tissuedevelopment, differentiation, and death. Annu Rev Genomics [J].Genet ,2006,7: 175-199.
  • 5吕宏军,施秉银,郭辉.Barraquer-Simons综合征一例[J].中华内科杂志,2011,50(2):155-156. 被引量:5
  • 6Capanni C, Mattioli E, Columbaro M, et al. Altered pre-lamin Aprocessing is a common mechanism leading tolipodystrophy. Human Mol Genet,2005 ,14 : 1489-1502.
  • 7Boguslavsky RL,Stewart CL, Womian HJ. Nuclear lamin A inhibitsadipocyte differentiation : implications for Dunnigan-type familialpartial lipodystrophy. Human Mol Genet ^2006,15 ; 653-663.
  • 8Fong LG,Ng JK, l^immenling J, et al. Prelamin A and lamin Aappear to be dispensable in the nuclear lamina. J Clin Invest,2006,116:743-752.
  • 9梁华.脂肪萎缩性糖塚病并下颌骨肢端发育不全样lamin病的分子病因和胰岛素抵抗的分子机制研究.广州:中山大学,2007.

二级参考文献24

  • 1Arioglu E,Duncan-Morin J,Sebring N,et al.Efficacy and safety of troglitazone in the treatment of lipodystrophy syndromes.Ann Intern Med,2000,133:263-274.
  • 2Chong AY,Lupsa BC,Cochran EK,et al.Efficacy of leptin therapy in the different forms of human lipodystrophy.Diabetologia,2010,53:27-35.
  • 3Goossens S,Coessens B.Facial contour restoration in BarraquerSimons syndrome using two free TRAM flaps:Presentation of two case reports and long-term follow-up.Microsurgery,2002,22:211-218.
  • 4Misra 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.Medicine(Baltimore),2004,83:18-34.
  • 5Kurugt~l Z, Ulger Z, Berk O, et al. Acquired partial lipodystrophy associated with varicclla. Turk J Pediatr,2009,51:617-620.
  • 6Misra 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. Medicine(Baltimore) ,2004, 83 : 18-34.
  • 7Khanna N, Sirka C, Gupta S, el al. Lipodystrophy following hepatitis infection: a causative relationship? J Eur Aead Dermatol Venereol, 2004,18 : 345-346.
  • 8Ben Ghorbel I, Ben Salem T, Lamloum M, et al. Barraquer-Simons syndrome in a patient with systemic lupus erythematosus. Rev Med Interne ,2010,31:372-374.
  • 9Requena Caballero C, Angel Navarro Mira M, Bosch IF, et al. Barraquer-Simons lipodystrophy associated with antiphospholipid syndrome. J Am Acad Dermatol, 2003,49:768-769.
  • 1014egele RA, Cao H, Liu DM, et al. Sequencing of the reannotated LMNB2 gene reveals novel mutations in patients with acquired partial lipodystrophy. Am J I-Ium Genet, 2006, 79:383-389.

共引文献4

同被引文献18

  • 1彭年春,时立新,张松,范元硕.获得性全身性脂肪萎缩一例[J].中华糖尿病杂志,2009,1(1). 被引量:3
  • 2蒲素,李宏亮.神经性厌食症52例临床分析[J].中国综合临床,2005,21(8):713-714. 被引量:6
  • 3刘于宝,梁长虹.MRI定性定量研究脂肪肝的进展[J].临床放射学杂志,2006,25(10):975-978. 被引量:4
  • 4Hegele RA, Joy TR,Al-Attar SA, et al. Thematic review series : Adi- pocyte Biology. Lipodystrophies: windows on adipose biology and metabolism [ J ]. J Lipid Res,2007,48 : 1433-1444.
  • 5Chan JL, Oral EA. Clinical classification and treatment of congenital and acquired lipodystropby[ J]. Endocr Pract,2010,16:310-323.
  • 6Agarwal AKI, Garg A. Genetic basis of lipodystrophies and manage- ment of metabolic complications [ J ]. Annu Rev Med ,2006 ,57 : 297- 311.
  • 7Misra A, Garg A. Clinical features and metabolic derangements in ac- quired generalized lipodystrophy: case reports and review of the lit- erature[ J]. Medicine (Baltimore) ,2003,82 : 129-146.
  • 8Misra A, Peethambaram A, Garg A. Clinical features and metabolic and autoimmune derangements in acquired partial lipodystrophy: re- port of 35 cases and review of the literature [ J ]. Medicine ( Balti- more) ,2004,83 : 18-34.
  • 9Misra A, Peethambaram A, Garg A. An unusual cause of delayed pu- berty:Berardinelli- Seip syndrome [ J]. J Pediatr Endocrinol Metab, 2012,25:1157-1160.
  • 10Al-Attar SA,Pollex RL, Robinson JF, et al. Semi-automated segmen- tation and quantification of adipose tissue in calf and thigh by MRI : a preliminary study inpatients with monogenic metabolic syndrome [ J ]. BMC Med Imaging,2006,6 : 11-18.

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