OBJECTIVE: To report the clinical characteristics, biochemical profiles, diagnosis and treatment of one Chinese pedigree with glucocorticoid-remediable aldosteronism (GRA) and to study its molecular mechanism. METHODS...OBJECTIVE: To report the clinical characteristics, biochemical profiles, diagnosis and treatment of one Chinese pedigree with glucocorticoid-remediable aldosteronism (GRA) and to study its molecular mechanism. METHODS: Plasma and urinary aldosterone, cortisol and plasma renin activities were dynamically tested and diagnostic therapy with dexamethasone was undergone in 3 affected subjects. Long-distance PCR as well as DNA sequencing were applied to detect the fusion gene in this pedigree. RESULTS: In this GRA pedigree, there were 4 affected subjects who had hypertension, hypokalemia and low basic and provoked renin activity. Three patients were given dexamethasone treatment, and had a significant decrease in plasma aldosterone concentrations (PACs) (from 192 +/- 9 ng/L to 87 +/- 7ng/L, P展开更多
许多骨与软组织肿瘤中存在染色体易位的现象,其中对尤文肉瘤家族肿瘤(Ewing sarcoma family of tumors,ESFT)中染色体易位的研究最早且最为深入。约85%左右的ESFT患者存在t(11;22)(q24;q12)染色体易位,由其编码的融合蛋白EWS/FLI1是导致...许多骨与软组织肿瘤中存在染色体易位的现象,其中对尤文肉瘤家族肿瘤(Ewing sarcoma family of tumors,ESFT)中染色体易位的研究最早且最为深入。约85%左右的ESFT患者存在t(11;22)(q24;q12)染色体易位,由其编码的融合蛋白EWS/FLI1是导致ESFT发生和发展的关键因素。因此,对EWS/FLI1进一步研究可以为ESFT的诊断、治疗和预后等提供新的靶点。本文结合近几年的最新报道,对EWS/FLI1在ESFT发生和发展中的作用机制以及靶向治疗等方面的最新进展做一综述。展开更多
基金ThisprojectwassupportedbythegrantofNationalNaturalFoundationofSciences (No 3 95 70 3 45 )
文摘OBJECTIVE: To report the clinical characteristics, biochemical profiles, diagnosis and treatment of one Chinese pedigree with glucocorticoid-remediable aldosteronism (GRA) and to study its molecular mechanism. METHODS: Plasma and urinary aldosterone, cortisol and plasma renin activities were dynamically tested and diagnostic therapy with dexamethasone was undergone in 3 affected subjects. Long-distance PCR as well as DNA sequencing were applied to detect the fusion gene in this pedigree. RESULTS: In this GRA pedigree, there were 4 affected subjects who had hypertension, hypokalemia and low basic and provoked renin activity. Three patients were given dexamethasone treatment, and had a significant decrease in plasma aldosterone concentrations (PACs) (from 192 +/- 9 ng/L to 87 +/- 7ng/L, P
文摘许多骨与软组织肿瘤中存在染色体易位的现象,其中对尤文肉瘤家族肿瘤(Ewing sarcoma family of tumors,ESFT)中染色体易位的研究最早且最为深入。约85%左右的ESFT患者存在t(11;22)(q24;q12)染色体易位,由其编码的融合蛋白EWS/FLI1是导致ESFT发生和发展的关键因素。因此,对EWS/FLI1进一步研究可以为ESFT的诊断、治疗和预后等提供新的靶点。本文结合近几年的最新报道,对EWS/FLI1在ESFT发生和发展中的作用机制以及靶向治疗等方面的最新进展做一综述。
