摘要
目的研究汉族人家族性中枢神经系统血管母细胞瘤(HB)的家系特点及VHL基因突变情况。方法对临床发现的一个HB家族存活的14名成员进行详细调查,绘制HB家系图;并抽取其外周静脉血进行VHL基因测序。结果本家系发病年龄23～53岁,外显率12/31(38%),男性发病比女性多见(9∶3),发病以HB多见(10/12);遗传可能来自母系,近亲结婚导致他们子女的发病率较高;基因测序结果未发现VHL基因突变。结论家族性HB是严重危害患者及其家族成员的疾病,对于每个怀疑有家族史的HB患者都要对其家系成员进行普查,应避免近亲结婚;一旦确诊VHL病,则要终生随访。
Objective To investigate the characteristics of Chinese genealogy in a family with central nervous system （CNS） hemangioblastomas （HBs）. Methods A detailed survey of a familiar members with CNS HBs was conducted in fourteen alive members. VHL gene sequence was detected. A chart of geneology was drawn as well. Results In the family the onset age of illness was from 23 to 53 years old, males were of predominance. The penetrance was 38%. CNS HBs were found in ten patients, multiple hemangioblastomas in particular two patients. Nosogenic gene may originate from Ⅰ 1 member of maternal side. No VHL gene mutation was detected. Conclusion Familiar HBs are of serious hereditary diseases involved the patients and their family, which should be sought thoroughly in suspected cases and their family members, especially close relative inbreedings.
出处
《中华神经外科杂志》
CSCD
北大核心
2007年第7期521-524,共4页
Chinese Journal of Neurosurgery
关键词
血管母细胞瘤
家系
VHL病
Hemangioblastoma
Genealogy survey
VHL disease
