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Chediak-Higashi综合征1例报告并文献复习 被引量：3

Chediak-Higashi Syndrome:A Case Report and Literature Review
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摘要 目的:提高对Chediak-Higashi综合征的认识。方法:对1例Chediak-Higashi综合征患儿的临床资料进行分析,并复习国内外相关文献。结果:Chediak-Higashi综合征主要表现为反复感染、眼部及皮肤白化病,加速期患者主要为全血细胞减少、肝脾淋巴结肿大等噬血细胞综合征表现。本病的确诊依靠在外周血涂片、骨髓片中的有核细胞胞浆内找到紫红色、圆形或椭圆形的巨大颗粒。结论:Chediak-Higashi综合征是一种罕见病,预后差,在临床中应加深对该病的认识,以早期诊断。 Objective：To improve the recognition of Chediak-Higashi syndrome（CHS）.Method：The clinical data of one case of CHS was analyzed and the related literatures were reviewed.Results：CHS often presented with recurrent infections and oculocutaneous albinism.The manifestations of the accelerated phase of CHS were similar to those of hemophagocytic syndrome,such as pancytopenia,hepatosplenomegaly and lymphadenopathy.The diagnostic hallmark was the occurrence of characteristic giant granules in the peripheral leukocytes and their bone marrow precursors.Conclusion：CHS is a rare disease with poor prognosis.The early diagnosis is important.
作者 陈惠芹 陈健良 蔡耘 王清文 何政贤
机构地区 中山大学附属第三医院儿科
出处 《中国误诊学杂志》 CAS 2007年第28期6723-6725,共3页 Chinese Journal of Misdiagnostics
关键词 CHEDIAK-HIGASHI综合征 病例报告[文献类型] 人类 Chediak-Higashi Syndrome Case Reports [Publication Type] Humans
分类号 R55 [医药卫生—血液循环系统疾病]
  • 相关文献

参考文献5

  • 1姜俊,麻宏伟.Chediak-Higashi综合征的分子遗传学研究进展[J].国外医学（遗传学分册）,2004,27(1):51-53. 被引量：5
  • 2Haddad E, Deist FL, Blanche S, et al. Treatment of Chediak-Higashi syndrome by allogenie bone marrow transplantation : report of 10 cases[J]. Blood,1995,85(11):3328-3333.
  • 3Trigg M, Schugar R. Chediak-Higashi syndrome, hematopoietic chimerism corrects genetic defect[J]. Bone Marrow Transplantation,2001,27(11) :1211-1213.
  • 4Ward DM, Shiflett SL, Kaplan J. Chediak-Higashi syndrome: a clinical and molecular view of a rare lysosomal storage disorder [J]. Curt Mol Med,2002,2(5):469-477.
  • 5Tardieu M, Lacroix C, Neven B, et al. Progressive neurologic dysfunctions 20 years after allogeneie bone marrow transplantation for Chediak-Higashi syndrome[J]. Blood, 2005,106 (1) : 40-42.

二级参考文献13

  • 1Fukai K, Oh J, Karim MA, et al. Homozygosity mapping of the gene for Chediak-Higashi syndrome to chromosome 1q42-q44 in a segment of conserved synteny that includes the mouse beige locus (bg). Am J Hum Genet, 1996,59(3): 620-624.
  • 2Certain S, Barrat F, Pastural E, et al. Protein truncation test of LYST reveals heterogenous mutations in patients with ChediakHigashi syndrome. Blood, 2000,95(3): 979-983.
  • 3Karim MA, Suzuki K, Fukai K, et al. Apparent genotype-phenotype correlation in childhood, adolesoent, and adult Chedial-Higashi syndrome. Am J Med Genet, 2002,108(1): 16-22.
  • 4Den Dunnen JT, Van Ommen GJ. The protein truncation test: a review. Hum Mutat, 1999,14(2): 95-102.
  • 5Tuffery S, Chambert S, Bareil C, et al. Mutation analysis of the dystrophin gene in southern French DMD or BMD families: from southern blot to protein truncation test. Hum Genet, 1998, 102(3):334-342.
  • 6Chen JD, Shan XN, Yang HM, et al. ATM mutation detection using PTT technique. J Southeast Univers (Medical Science Edition),2002, 21(1): 1-5.
  • 7Barrat FJ, Auloge L, Pastural E, et al. Genetic and physical mapping of the Chediak-Higashi syndrome on chromosome 1q42-43. Am J Hum Genet, 1996,59(3): 625-632.
  • 8Introne W, Boissy RE, Gahl WA. Clinical, molecular, and cell biological aspects of ChediakHigashi syndrome. Mol Genet Metab,1999, 68(2): 283-303.
  • 9Ward DM, Shiflett SL, Kaplan J. Chediak-Higashi syndrome: a clinical and molecular view of a rare lysosomal storage disorder.Curr Mol Med, 2002,2(5): 469-477.
  • 10Shiflett SL, Kaplan J, Ward DM. Chediak-Higashi syndrome: a rare disorder of lysosomes and lysosome related organelles. Pigment Cell Res, 2002,15(4): 251-257.

共引文献4

同被引文献18

  • 1Dufoureq-Lagelouse R, Lambert N, Duval M, et al. Chediak-Higashi syndrome associated with maternal uniparental isodisomy of chromosome 1 [J]. EurJHumGenet, 1999, 7(6): 633 -637.
  • 2Kaplan J, De-Domenico I, Ward D M. Chediak-Higashi syndrome [J]. Curr Opin Hematol, 2008, 15( 1 ) : 22 -29.
  • 3Ochs H D, Edvard-Smith C I, Puck J M. Primary hnmunodeficiency Diseases: A Molecular and Genetic Approach [ M ].2nd ed. New York : Oxford University Press, 2007 : 570 - 575.
  • 4Sandrock K, Zieger B. Current Strategies in Diagnosis of Inherited Storage Pool Defects [ J]. Transfus Med Hemother, 2010, 37 (5): 248 - 258.
  • 5Huizing M, Helip-Wooley A, Westbroek W, et al. Disorders of lysosome-related organelle biogenesis: clinical and molecular genetics[J].Annu Rev Genomies Hum Genet, 2008, 9 : 359 -386.
  • 6Spritz R A. Multi-organellar disorders of pigmentation : tied up in traffic LJ]. ClinGenet, 1999, 55(5): 309 -317.
  • 7Filipovieh A H. Hemophagocytie lymphohistiocytosis (HLH) and related disorders [J]. Hematology Am Soc Hematol Educ Program, 2009, 127 - 131.
  • 8Barbosa M D, Barrat F J, Tchernev V T, et al. Identification of mutations in two major mRNA isofomls of the Chediak-Higashi syndrome gene in human and mouse[J]. Hum Mol Genet, 1997, 6(7): 1091 -1098.
  • 9Karim M A, Nagle D L, Kandil H H, et al. Mutations in the Chediak-Higashi syndrome gene ( CHSI ) indicate requirement for the complete 3801 amino acid CHS protein [J]. Hum Mol Genet, 1997, 6 (7) : 1087 - 1089.
  • 10Zarzour W, Kleta R, Frangoul H, et al. Two novel CHS1 (LYST) mutations : clinical correlations in an infant with Chediak-Higashi syndrome [J]. Mol Genet Metab, 2005, 85(2): 125-132.

引证文献3

二级引证文献7

中国误诊学杂志
2007年 第28期

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