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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 pedigree characteristics and VHL gene mutation of familial central nervous system hemangioblastoma (HB) in Han nationality. METHODS: A total of 14 HBsAg survivors were enrolled in this study. HB family line was drawn and peripheral venous blood was drawn for VHL gene sequencing. Results The incidence of this family was 23 to 53 years old, the penetrance was 12/31 (38%). The incidence of males was more common than that of females (9: 3) Marriage led to a higher incidence of their children; gene sequencing results did not find VHL mutations. Conclusions Familial HB is a disease that seriously affects patients and their family members. For each HB patient suspected of family history, their family members should be surveyed and their kinship should be avoided. Once the diagnosis of VHL disease, they should be followed up for life.