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47,XXX/48,XXX,+8 合并贝赫切特综合征1 例报告及文献复习

  • 李辛 ,
  • 程青 ,
  • 周云芳 ,
  • 王秀敏 ,
  • 丁宇 ,
  • 李娟 ,
  • 殷蕾 ,
  • 王剑
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  • 上海交通大学医学院附属上海儿童医学中心1 . 内分泌代谢科,2 . 罕见病诊治中心,3 . 医学遗传科&分子诊断实验室(上海 200120)

收稿日期: 2017-05-15

  网络出版日期: 2017-05-15

基金资助

国家自然科学基金资助项目(No. 81370930,81201353 ,81472051)

A rare double trisomy 47,XXX/48,XXX,+8 combined Behcet disease:A case report and review of literature

  • LI Xin ,
  • CHENG Qing ,
  • ZHOU Yunfang ,
  • WANG Xiuming ,
  • DING Yu ,
  • LI Juan ,
  • YING Lei ,
  • WANG Jian
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  • 1.Department of Endocrinology, 2.Rare Disease Diagnosis and Treatment Center, 3.Department of Medical Genetics and Molecular Diagnostic Center, Shanghai Children’s Medical Center, Shanghai Jiaotong University School of Medicine,Shanghai 200127, China

Received date: 2017-05-15

  Online published: 2017-05-15

摘要

 目的 分析临床罕见的47XXX/48XXX+8合并贝赫切特综合征患者的临床特征和诊断、治疗。方法 回顾1 例47XXX/48XXX+8合并贝赫切特综合征患者的临床资料,染色体核型分析及基因分析结果,并复习相关文献。结果  患儿,女,11岁女性,反复发热6年余并伴有反复口腔溃疡及外阴溃疡,临床诊断为贝赫切特综合征;集合全基因芯片扫 描及外周血染色体核型分析结果,患儿染色体核型为为47,XXX[12]/48,XXX,+8[18]。结论 染色体核型分析与基因 分析在诊断疾病上有着相互补充的作用。 8号染色体上可能存在贝赫切特综合征相关致病基因的基因剂量增加效应。

本文引用格式

李辛 , 程青 , 周云芳 , 王秀敏 , 丁宇 , 李娟 , 殷蕾 , 王剑 . 47,XXX/48,XXX,+8 合并贝赫切特综合征1 例报告及文献复习[J]. 临床儿科杂志, 2017 , 35(5) : 355 . DOI: 10.3969/j.issn.1000-3606.2017.05.008

Abstract

 Objective To investigate the characteristics and essential points of diagnosis and treatment of double trisomy 47,XXX/48,XXX,+8 combined Behcet disease, a rare inherited immunodeficiency disorder. Methods The clinical manifestations, karyotype analysis and gene test results of the patients were analyzed, and relevant literatures were reviewed. Results A 11-year-old girl presented repeated fever for more than 6 years, accompanied with recurrent genital herpes infection and oral apthosis, was clinically diagnosed with Behcet disease. Cytogentic and molecular karyotyping on peripheral lymphocytes demonstrated 47,XXX[12]/48,XXX,+8[18]. Conclusions Conventional karyotype analysis and chromosomal microarray analysis have a complementary role in the diagnosis of the disease. We conclude that patients with constitutional trisomy 8 and those with trisomy 8 confined to the bone marrow are both at increased risk of developing features of Behcet disease. The mechanism may relate to increased gene dosage of candidate genes for  Behcet’s disease on chromosome 8.
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