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利德尔综合征(Liddle’s syndrome,LS)是一个拟似盐皮质激素过多的,由单基因异常造成的,表现为血压升高的综合征。目前在年轻低钾性高血压患者的鉴别诊断中考虑该疾病的存在。该研究的目的是:①评估一个新近发现的来自意大利西西里地区携带上皮钠通道P617L功能增强性β亚基的家族的临床表型。该研究组曾经报道在一个与新发现无关的西西里患者
Liddle’s syndrome (LS) is a syndrome that resembles a mineralocorticoid that is caused by a single gene abnormality and manifests itself as an increase in blood pressure. The disease is currently considered in the differential diagnosis of young hypokalemic hypertensive patients. The purpose of this study was to: (1) evaluate the clinical phenotype of a recently discovered family of P617L-enhancing beta subunits carrying the epithelial sodium channel from Sicily, Italy. The team reported on a Sicilian patient unrelated to the new findings