Brugada综合征患者的基因研究及临床护理

Genetic study and nursing care in patients with Brugada syndrome

目的通过对3例Ⅰ型Brugada综合征患者进行临床观察及基因检测,发现可能存在的基因突变,并总结临床护理经验。方法入选2017年1月至2018年6月于首都医科大学附属北京安贞医院确诊的3例Ⅰ型Brugada综合征患者,收集临床资料,采集外周血,提取DNA,进行高通量测序,分析基因检测结果,针对遗传性心律失常给予特殊护理,总结护理经验。结果 3例Brugada综合征患者均为男性,年龄分别为48、29、36岁,出现黑矇或晕厥,入院后辅助检查未发现器质性心脏病。基因测序发现3种错义突变:SCN1B基因c. 566 C> T突变、CACNA1C基因c. 5849 G> A突变、HCN4基因c. 710 A> G突变。Sanger测序验证与高通量测序结果一致,HCN4基因聚合酶链反应检测失败,传统方法未检测出。临床护理体会包括针对猝死率高的特点,注重夜间和休息时护理,及时发现和处理危险因素及诱发因素(发热、电解质紊乱、药物等),对患者及家属给予正确的心理辅导,合理解释基因检测结果,正确认识疾病。结论本研究3例Brugada综合征患者基因检测发现存在SCN1B基因c. 566 C> T突变和CACNA1C基因c. 5849 G>A突变。基因检测对于疾病的诊断、探索发病机制十分重要。针对疾病特点的临床护理有助于病情的转归,能提高患者及家属对疾病的理解和认识,减少恶性心脏事件的发生。

Objective To identify the possible gene mutation in 3 patients with typeⅠBrugada syndrome and to summarize the experience of clinical nursing care.Methods Three patients were diagnosed of typeⅠBrugada syndrome in Beijing Anzhen Hospital,Capital Medical University from January 2017 to June 2018.Clinical data were collected.Peripheral blood was collected to extract DNA;gene testing results of high throughput sequencing were analyzed.Special nursing care was given for hereditary arrhythmia.Results Three male patients with Brugada syndrome were 29,36 and 48 years old respectively.All paients had nigrescence or syncope.No organic heart disease was found in auxiliary examination.Three missense mutations were found by gene sequencing:c.566 C>T mutation of SCN1 B gene,c.5849 G>A mutation of CACNA1 C gene and c.710 A>G mutation of HCN4 gene.Sanger sequencing results were consistent with those of high throughput sequencing.Detection of HCN4 gene was failed by polymerase chain reaction and showed negative results by traditional method.Patients with Brugada syndrome were associated with a high rate of sudden death;main points of clinical nursing included daily care,early identification and treatment for high risk factors(fever,electrolyte disorders,drugs,etc.),appropriate psychological counseling,reasonable interpretation of gene testing results and correct recognization of the disease.Conclusions Gene mutation c.566 C>T of SCN1 B and c.5849 G>A of CANA1C are detected in 3 patients with typeⅠBrugada syndrome.Gene testing is important in exploring the pathogenesis and diagnosis of disease.Clinical nursing based on the characteristics of disease can improve the prognosis,enhance the medical understanding of patients and their families,and reduce the occurrence of adverse cardiac events.