治疗学_____]_神经纤维瘤病；遗传学；诊断；治疗学

多发性神经纤维瘤病家系分析(附2家系报告)

http://www.100md.com 《齐鲁医学杂志》 2006年第1期

治疗学,,],神经纤维瘤病；遗传学；诊断；治疗学,1临床资料,2讨论,[参考文献]

     [摘要] 目的探讨多发性神经纤维瘤病的家族遗传性及诊断治疗的进展。方法对多发性神经纤维瘤病2个家系进行回顾性调查分析。结果 2家系均有家族性，对症治疗取得满意效果。结论神经纤维瘤病是一种遗传性疾病，基因诊断是其早期诊断的发展方向，症状性切除是其治疗的目的。

    [关键词] 神经纤维瘤病；遗传学；诊断；治疗学

    MULTIPLE NEUROFIBROMATOSIS: A REPORT OF TWO FAMILY ANALYSIS

    ZHENG XUPENG, FAN JICHENG, QIN HONGMING, et al

    (Department of Surgery, Beihai Hospital of Yantai, Longkou 265701, China)

    [ABSTRACT]ObjectiveTo study the diagnosis and therapy of hereditary neurofibromatosis. MethodsTwo families with multiple neurofibromatosis were analyzed. ResultsThe family history of the disease was confirmed. The patients responed well to symptomatic treatment. ConclusionThe neurofibromatosis is a hereditary disease. The trend of its early diagnosis is gene diagnosis. The symptomrelief surgical removal is the aim of the treatment.

    [KEY WORDS]neurofibromatosis; genetics; diagnosis; therapeutics

    神经纤维瘤病(NF)系多系统受累的先天性、遗传性常染色体显性遗传病 ......

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