ABSTRACT
Objective To detect the mutations of Von Hippel-Lindau (VHL) gene via analyzing the prevalence of family members of VHL syndrome,clinical diagnosis and treatment,and gene analysis of patients with hemangioblastoma.methods All members of the VHL syndrome family members improved all relevant tests and plotted the family map.5 ml peripheral blood was extracted for gene sequencing,and the sequencing Result s were compared with the reported mutations of VHL gene in NCBI database.Result s(1)Analysis of clinical data of four members of the family:Ⅰ-2,Ⅱ-1,Ⅱ-5 suffering from central nervous system hemangioblastoma, Ⅱ-3 with pancreatic,retinopathy and pheochromocytoma,and Ⅱ-5 also combined with kidney,pancreatic lesions.The second generation of patients in the family have been treated surgically.(2)Gene sequencing Result s showed that all subjects in the test had the same mutation:exon2 109 sequence ATATCACACTGCCA was deleted and termination codon UGA appeared in exon 502.Conclusion Through the mutations of the VHL syndrome family,it is found that the family mutation type is a new mutation.For patients with central nervous system hemangioblastoma-based should be suspected of the disease and improve the family history survey.Once the diagnosis of familial VHL syndrome patients are confirmed,it is necessary to inform the other members of the family for clinical screening,and carry out genetic testing to reduce the harm of the disease to the greatest extent.
ABSTRACT
Objective To compare the experience of perioperative management and anesthesia in VHL syndrome and non-VHL patients undergoing pheochromocytoma resection .Methods 50 patients scheduled for surgical removal of pheochromocytoma in PUMC Hospital from 2009-01-01 to 2014-12-31 were included in this retrospective analysis . Among them,12 patients were diagnosed with VHL syndrome ,others were non-VLH patients.We focused on the clini-cal records , especially clinical manifestation , preoperative preparation , intraoperative anesthetic management , opera-tion duration and postoperative hospital stay .Results Comparing with non-VHL patients , VHL syndrome patients undergoing pheochromocytoma resection surgery were much younger , with multiple pheochromocytoma and a signifi-cantly increased norepinephrine release .The drug preparation period was much longer , as well as the operative time and hospital stay (P<0.05).But no statistical difference existed in the intraoperative hemodynamic fluctuation and the outcomes of the patients .Conclusions VHL syndrome patients mainly present with multiple pheochromocytoma which has more aggressive function .Since the long operation duration and high risk , the optimization of perioperative management and adequate drug preparation are the key factors to ensure the operation safety .