CAJ | 학술논문

目的对2个临床诊断von Hippel-Lindau (VHL)综合征的中国人家系进行临床和分子生物学研究.方法全面收集患者病史资料、实验室检查及影像学资料,采集患者外周血提取DNA并通过PCR扩增产物直接测序明确有无突变.结果 2个家系4例患者中3例血浆去甲苄肾上腺素均明显升高,家系1中的1例患者影像学提示双侧肾上腺占位,左肾占位,另1例患者右侧肾上腺占位,基因诊断提示VHL基因1号外显子杂合突变;家系2中患者双侧肾上腺占位,基因诊断提示VHL基因3号外显子杂合突变.结论 VHL基因突变是导致这两个家系成员发病的根本原因.
목적 대2개림상진단von Hippel-Lindau (VHL)종합정적중국인가계진행림상화분자생물학연구.방법 전면수집환자병사자료、실험실검사급영상학자료,채집환자외주혈제취DNA병통과PCR확증산물직접측서명학유무돌변.결과 2개가계4례환자중3례혈장거갑변신상선소균명현승고,가계1중적1례환자영상학제시쌍측신상선점위,좌신점위,령1례환자우측신상선점위,기인진단제시VHL기인1호외현자잡합돌변;가계2중환자쌍측신상선점위,기인진단제시VHL기인3호외현자잡합돌변.결론 VHL기인돌변시도치저량개가계성원발병적근본원인.
Objective To investigate the molecular defects of the von Hippel-Lindau (VHL) gene in two Chinese pedigrees suffering from VHL syndrome.Methods Clinical data and hormone profiles were collected.VHL genotyping was performed.The exons of VHL gene of all members were amplified and sequenced.Results Serum normetanephrine was significantly elevated in three of four patients.A large right adrenal mass,a left adrenal nodule and a nodule in the left kidney were observed in the proband of pedigree one by contrast-enhanced CT.A right adrenal mass was also detected in his younger sister.Genetic analysis revealed a heterozygous mutation located at the first exon of the VHL gene.Bilateral adrenal masses were detected in the patient of pedigree two.Genetic analysis revealed a heterozygous mutation located at the third exon of the VHL gene.Conclusion Mutation of the VHL gene was the fundamental cause of VHL syndrome in these two pedigrees.