Von Hippel-Lindau综合征的临诊应对
Von Hippel-Lindau종합정적림진응대
Approach to the patients with von Hippel-Lindau syndrome
  • 万方数据
    中华内分泌代谢杂志 중화내분비대사잡지
    CHINESE JOURNAL OF ENDOCRINOLOGY AND METABOLISM
    2013年 4期 344-348 ,共5页

    黄延玲%林纬%张小凯%陈清石%温俊平%庄维特%林丽香%陈刚

    황연령%림위%장소개%진청석%온준평%장유특%림려향%진강

    Von Hippel-Lindau综合征%VHL基因%诊断%治疗 Von Hippel-Lindau綜閤徵%VHL基因%診斷%治療
    Von Hippel-Lindau종합정%VHL기인%진단%치료
    Von Hippel-Lindau syndrome%VHL gene%Diagnosis%Treatment
    Von Hippel-Lindau(VH)综合征是一种常染色休显性遗传的家旅性多系统肿瘤综合征,为VHL基因突变或缺失所致.本文通过对1例VHL综合征患者的临床特点进行分析,并就该病发病机制、临床表现、基因诊断以及治疗的国内外研究进展进行时论,以加深临床医师对本病的认识.
    Von Hippel-Lindau(VH)종합정시일충상염색휴현성유전적가려성다계통종류종합정,위VHL기인돌변혹결실소치.본문통과대1례VHL종합정환자적림상특점진행분석,병취해병발병궤제、림상표현、기인진단이급치료적국내외연구진전진행시론,이가심림상의사대본병적인식.
    Von Hippel-Lindau (VHL) syndrome is an autosomal-dominant hereditary cancer syndrome caused by germline mutations or deletions in the VHL gene.We present a case with VHL syndrome,regarding the pathogenesis,clinical manifestation,genetic diagnosis and treatment,so as to help further understand this syndrome.
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