目的：分析贵州一家族性CNS HB家系的流行病学特点。方法对临床上发现的一个家族性CNS HB家族进行详细流行病学调查，获患者及其家属知情同意后对其中存活的38名家族成员进行详细的体格检查和影像学筛查。结果该家系成员中现存有7例发病，年龄14～59岁，平均36．5岁，外显率10/38（26．3％），男性发病比女性多见（6∶4），CNS HB占90％，且多发性 HBs占20％；遗传可能来自父系（Ⅰ2成员）。结论家族性中枢神经系统血管母细胞瘤是严重危害患者及其家族成员的一种具有遗传性的VHL病；发病年龄较轻，多发病灶，易复发，对于每个怀疑有家族史的CNS HB患者都要对其家系成员进行普查，包括影像学、基因生物学及蛋白组学检测。%Objective To analyze the epidemiological characteristics of family with CNS HB in Guizhou .Methods Detailed epidemiological investigation was performed on a family with CNS HBs dis-covered clinically ,and detailed physical examination and radiographic screening were done on 38 survi-ving family members ,informed consent was obtained from all of the patients and family members .Re-sults 7 members of the family had onset of CNS HB ,their age ranged 14~59 years ,with a mean age of 36 .5 years ,penetrance was 10/38 (26 .3% ) ,the onset was more common in males than females (6∶4) ,the disease occurred was all CNS HB ,and multiple HBs was common ,the condition may be inherited from the paternal line (I 2 members) .Conclusion For familial of CNS HB ,cranial MRI is the major method of diagnosis and follow-up ,and microsurgical resection is the primary treatment ,in ad-dition ,stereotactic radiotherapy can be used as a complementary therapy .Since VHL disease is often combined with lesions of other parts ,and has high recurrence rate ,which are often ectopic multiple le-sions ,the follow-up as well as genetic and proteomic detection on the entire family members should be stressed .
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