目的:探讨原发性醛固酮增多症(primary aldosteronism,PA)患者胰岛素敏感性和胰岛β细胞功能变化情况。方法:选取2014年1月至2015年12月复旦大学附属上海市第五人民医院收治的PA患者95例和原发性高血压(essential hypertension,EH)患者...目的:探讨原发性醛固酮增多症(primary aldosteronism,PA)患者胰岛素敏感性和胰岛β细胞功能变化情况。方法:选取2014年1月至2015年12月复旦大学附属上海市第五人民医院收治的PA患者95例和原发性高血压(essential hypertension,EH)患者210例。根据有无糖尿病病史分层分析PA患者和EH患者中胰岛素抵抗和胰岛β细胞功能的情况。根据醛固酮/肾素活性(aldosterone to active renin ratio,ARR)是否大于50,将PA患者分为PA高值组(45例)及PA低值组(50例)。采用QUICK指数、HOMA指数评估胰岛素敏感性,HOMA-β、早时相胰岛功能(ΔI30/ΔG30)评估胰岛β细胞功能。结果:单因素分析中,无糖尿病病史人群,PA高值组HOMA-β低于EH组(P<0.05),PA高值组及低值组ΔI30/ΔG30均低于EH组(P<0.05);而在有糖尿病病史患者中,仅PA高值组HOMA-β低于EH组(P<0.05)。多元线性回归显示,无糖尿病病史人群中,立位醛固酮水平对LnΔI30/ΔG30有显著负性影响(β=-0.375,P<0.05);有糖尿病病史人群,立位醛固酮对LnHOMA-β有显著负性影响(β=-0.367,P<0.01)。无论有无糖尿病病史,醛固酮水平对胰岛素抵抗指标无影响。结论:PA引起的糖代谢异常可能与醛固酮增高致胰岛功能分泌障碍有关。展开更多
Background Multiple endocrine neoplasia type 1 （MEN1） by germline mutations of the tumor suppressor gene MEN1. with MEN1. Methods A large Chinese family with MEN1 was collected MEN1 gene were amplified and sequenced...Background Multiple endocrine neoplasia type 1 （MEN1） by germline mutations of the tumor suppressor gene MEN1. with MEN1. Methods A large Chinese family with MEN1 was collected MEN1 gene were amplified and sequenced. is an autosomal dominant cancer syndrome which is caused This study aimed to identify mutations in a Chinese pedigree All of the coded regions and their adjacent sequences of the Results In this family, a heterozygous cytosine insertion in exon 10 （c.1546_1547insC） inducing a frame shift mutation of MEN1 was found in the proband and the other two suffering members of his family. This mutation was linked to a novel single nucleotide polymorphism （SNP）in intron 3 （IVS3＋18C〉T）. Conclusions The mutation in exon 10 of MEN1 gene might induce development of parathyroid hyperplasia and pituitary adenoma and cosegregate with MEN1 syndrome. The significance of the new found IVS3＋18C〉T of MEN1 needs a further investigation.展开更多
文摘目的:探讨原发性醛固酮增多症(primary aldosteronism,PA)患者胰岛素敏感性和胰岛β细胞功能变化情况。方法:选取2014年1月至2015年12月复旦大学附属上海市第五人民医院收治的PA患者95例和原发性高血压(essential hypertension,EH)患者210例。根据有无糖尿病病史分层分析PA患者和EH患者中胰岛素抵抗和胰岛β细胞功能的情况。根据醛固酮/肾素活性(aldosterone to active renin ratio,ARR)是否大于50,将PA患者分为PA高值组(45例)及PA低值组(50例)。采用QUICK指数、HOMA指数评估胰岛素敏感性,HOMA-β、早时相胰岛功能(ΔI30/ΔG30)评估胰岛β细胞功能。结果:单因素分析中,无糖尿病病史人群,PA高值组HOMA-β低于EH组(P<0.05),PA高值组及低值组ΔI30/ΔG30均低于EH组(P<0.05);而在有糖尿病病史患者中,仅PA高值组HOMA-β低于EH组(P<0.05)。多元线性回归显示,无糖尿病病史人群中,立位醛固酮水平对LnΔI30/ΔG30有显著负性影响(β=-0.375,P<0.05);有糖尿病病史人群,立位醛固酮对LnHOMA-β有显著负性影响(β=-0.367,P<0.01)。无论有无糖尿病病史,醛固酮水平对胰岛素抵抗指标无影响。结论:PA引起的糖代谢异常可能与醛固酮增高致胰岛功能分泌障碍有关。
文摘Background Multiple endocrine neoplasia type 1 （MEN1） by germline mutations of the tumor suppressor gene MEN1. with MEN1. Methods A large Chinese family with MEN1 was collected MEN1 gene were amplified and sequenced. is an autosomal dominant cancer syndrome which is caused This study aimed to identify mutations in a Chinese pedigree All of the coded regions and their adjacent sequences of the Results In this family, a heterozygous cytosine insertion in exon 10 （c.1546_1547insC） inducing a frame shift mutation of MEN1 was found in the proband and the other two suffering members of his family. This mutation was linked to a novel single nucleotide polymorphism （SNP）in intron 3 （IVS3＋18C〉T）. Conclusions The mutation in exon 10 of MEN1 gene might induce development of parathyroid hyperplasia and pituitary adenoma and cosegregate with MEN1 syndrome. The significance of the new found IVS3＋18C〉T of MEN1 needs a further investigation.
