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目的本研究旨在分析1例儿童疑似Liddle综合征的上皮细胞钠通道编码基因SCNN1B及SCNN1G的基因突变及其与临床表型的关系。方法收集1个临床疑似Liddle综合征的临床资料,提取外周血基因组DNA,采用直接测序的方法进行SCNN1B及SCN N1G基因突变的检测。同时对其父母进行相关基因检测。对确诊患者给予限盐和口服钠通道拮抗剂治疗并对其进行随访。结果对该儿童患者的SCNN1B基因检测发现了一个杂合错义突变P618L。患者父母的血压均正常,未发现携带这一突变。对SCNN1G基因的检测没有发现突变。对先证者给予限盐和口服钠通道拮抗剂治疗,治疗1个月后随访发现疗效显著且稳定。结论基因检测不仅为儿童高血压患者提供明确诊断,并且有助于患者个体化靶向治疗,疗效显著。
Objective This study aimed to analyze the gene mutation of SCNN1B and SCNN1G, a gene encoding sodium channel in epithelial cells of a suspected Liddle syndrome in children and its relationship with clinical phenotype. Methods The clinical data of one suspected Liddle syndrome were collected and the genomic DNA of peripheral blood was extracted. The mutations of SCNN1B and SCN N1G were detected by direct sequencing. At the same time on their parents for genetic testing. Patients diagnosed with salt therapy and oral sodium channel antagonist therapy and follow-up. Results A heterozygous missense mutation, P618L, was found in this pediatric patient’s SCNN1B gene test. Patient’s blood pressure was normal, did not find that carrying this mutation. No mutations were detected in the SCNN1G gene. On the proband given limited salt and oral sodium channel antagonist treatment, follow-up after 1 month of treatment found significant and stable. Conclusion Gene test not only provides a definite diagnosis for children with hypertension, but also helps patients with personalized targeted therapy, with a significant effect.