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单基因遗传性内分泌代谢病基因诊断:从实验室到临床
单基因遗传性内分泌代谢病患者人数并不多,但病种繁多、涉及组织器官众多、诊疗异常困难,成为内分泌代谢病领域考验临床水平的一类疾病.以往此类疾病多以临床表型、生化检测、激素或酶的底物或产物量或其比值的改变来诊断,其诊断程序繁琐复杂,且并不能从根本的致病原因上做出明确诊断.
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肥胖相关代谢性疾病的新机制:肠道菌群相关的代谢性内毒素血症
目前,全世界超重人群已达12亿,肥胖症患者已达3亿,且正以每五年翻一番的速度增加.20世纪末,世界卫生组织就宣布:"肥胖日益成为影响人类健康的一种全球性疾病".在我国,成年人超重比例已达20%~30%,大城市成年人超重比例更高达40%.
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遗传性代谢病的防治要同时考虑社会效益和经济效益
非常感谢读者对<中华儿科杂志>2005年5期325页刊出的"串联质谱技术在有机酸血症筛查中的应用研究"一文的关注.赵一鸣医师提出串联质谱仪是一种复杂的高科技设备,设备本身昂贵,维护成本高,对用于我国新生儿筛查的可行性和经济性提出疑问,尤其建议将串联质谱新技术的应用目标由人群筛查改为临床诊断与鉴别诊断.我们认为这一建议值得斟酌.
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苯丙酮尿性白痴综合征20例
BACKGROUND: Phenylpyruvic oligophrenia (Folling's disease)is one of seldom treatable genetic metabolic diseases and early diagnosis and treatment were the key to avoid irreversible injury of nerve system.
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遗传性代谢病的诊断思路
遗传性代谢病(inherited metabolic diseases,IMD)或先天性代谢缺陷(inborn errors of metabolism,IEM)是指由于基因突变引起酶缺陷、细胞膜功能异常或受体缺陷,从而导致机体生化代谢紊乱,造成中间或旁路代谢产物蓄积,或终末代谢产物缺乏,引起一系列临床症状的一组疾病[1].IMD多为常染色体隐性遗传病,少数为常染色体显性遗传或X连锁伴性遗传.自1908年Garrod提出IMD概念以来,迄今发现的疾病已有500余种,并随诊断技术的提高而逐渐增加.IMD虽单一病种发生率较低,但群体患病率高[2].本文拟对IMD的诊断思路进行探讨.
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儿童内分泌遗传代谢疾病的临床研究进展
2006年我国儿童内分泌遗传代谢病研究领域无论在基础还是临床方面均取得了较大的进展.160余篇论文在国内核心期刊上发表,其中内分泌疾病100余篇,遗传代谢病60余篇.20余篇论文在第4届亚太儿童内分泌(APPES)学术会议上交流.第14次全国儿科学术会议上内分泌遗传代谢病投稿200余篇,8篇优秀论文在大会上发言,40篇在分会上发言,大会还以专题讲座的形式重点介绍了儿童肥胖及代谢综合征.论文既涉及当前国际研究热点又结合我国当前临床工作重点;既有多层次大样本的临床研究,又有与临床紧密结合的基础研究.现仅将主要临床研究进展报道如下.
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遗传性代谢病的新生儿筛查
遗传性代谢病(inherited metabolic diseases,IMD)是一类疾病种类繁多,单一病种患病率较低,但是总体发病率较高、危害严重的一组疾病,是儿科临床的疑难杂症[1,2].有些遗传性代谢病在新生儿早期,例如出生后数小时即发病,有些表现为喂养困难、食欲差、呼吸困难、呕吐、嗜睡、惊厥、昏迷、肌张力异常等.部分疾病可在幼儿期、儿童期、青少年期甚至成年期发病,表现为生长障碍、乏力、肝肿大或者肝脾肿大、骨骼畸形、智力落后等.
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苏州工业园区2008年体检人群代谢疾病调查
近年来,随着经济的发展,人们生活方式的改变,脂肪肝、血脂异常、糖尿病、高血压病、高尿酸血症等代谢性疾病的患病率逐年升高,已成为当今危害人类健康、耗费大量医疗资源的主要慢性疾病.我院地处苏州工业园区,是年轻的经济快速发展的新移民地区.为了解该地区人群代谢性疾病状况,我们对我院2008年度体检人员体检数据分析报道如下.
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2007全国内分泌学学术会议——代谢综合征与亚临床内分泌代谢疾病研讨会
中华医学会内分泌学分会于2007年10月12至14日在武汉召开了"2007全国内分泌学学术会议"并成立了中华医学会内分泌学分会青年委员会.本次会议主题为当前的两个"热点"问题:"代谢综合征"和"亚临床疾病",参会代表1500余名,人数为历届年会之.大会内容丰富、形式多样,包括邀请国内外专家做特邀报告(10场)、专题发言、专题讨论与辩论、口头和壁报交流、优秀青年论文评奖等.
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全国内分泌及代谢疾病临床诊治进展学术会议纪要
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内分泌与代谢疾病治疗药物新制剂
2006年全球内分泌与代谢疾病处方治疗药市场规模为723亿美元.据预测,至2011年该市场销售额将增至964亿美元,复合年增长率为5.9%.
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Immunosuppressive strategies and management
Advances in immunosuppressive therapy have significantly improved short-term allograft and patient survival.However,chronic allograft failure,antibody mediated rejection,recurrent diseases and immunosuppressive drug associated adverse effects remain serious barriers to long-term survival and quality of life.New immunosuppressive agents and protocols are being evaluated to combat these problems.Importantly,clinicians must work to manage post-transplant complications and avoid complex medication regimens,which will potentiate drug interactions and non.compliance.Different organs have different immunogenicities and each recipient has a unique clinical and immunologic profile.The clinician must recognize these variations and customize the immunosuppressive regimens and treatment protocols based on the individual condition.The general principles of an individualized immunosuppressive protocol should take the following factors into account:organ type,donor and recipient characteristics,quality of the donor organ,recipienVs medical history,recipient's undedying disease,immunologic risk for acute rejection,potential co-morbidity related to immunosuppression,significant druginteractions,medication costs and patient compliance.In addition,the combination of immunosuppressive drugs must have a pharmacologic rationale to achieve the desired goal of suppressing the individual's immune system to render the patient tolerant to the allograft while minimizing co-morbidities.For the past few years,many clinical strategies have been applied in an attempt to improve graft survival or to reduce immunsuppressants induced side-effects.Specific protocols include steroid or CNI avoidance,minimization or withdraw,desensitization,and treatment for antibody mediated rejection,disease specific,and pediatric specific.The short-term outcomes from these different strategies are promising but the long-term results remain to be determined.Unfortunately,current immunosuppressive agents or strategies have failed to adequately control chronic rejection in most of solid organ transplantation except liver transplantation.Eady post-transplant complications aye generally related to the operation,the severity of pre-operative illness,immunologic status,and the quality of the donor organ.Careful recipient and donor selection is paramount to minimize severity of disease and medical comorbidities.These early complications include allograft dysfunction,cardiovascular and hemodynamic instability,and immunosuppressive drug-induced adverse effects.Acute infection remains a common and serious early complication despite new and effective drug therapies,placing the responsibility on the clinician for early recognition and treatment.Emerging resistant bacteria and fungi require early and aggressive intervention.Unlike infection,early aUograft rejection is usually limited and manageable with the newer immunosuppressive agents.However,it must be distinguished from other causes of allograft dysfunction(ie.recurrent hepatitis C,ealcineurin induced nephrotoxicity,or infection).Recently approved Cylex@immune cell function assay allows clinicians to tailor and individualize immunosuppression to prevent organ rejection while minimizing infection and complications.Improved patient and allograft survival has enabled transplant recipients to reach milestones and return to productive lives provided they are compliant. It was also challenged the clinician to manage the long-term complications of immunosuppression therapy, adverse drug interaction, recurrent diseases and chronic allograft failure. Long-term immunosuppressive therapy places transplant recipients at risk for renal insufficiency, cardiovascular and metabolic diseases, de novo malignancies, and psychosocial challenges. The management of viral hepatitis C re-infection, chronic allograft nephropathy, vasculopathy, and obliterative bronchiolitis is currently the greatest challenges facing the transplant specialist. The management of immunosuppressants induced adverse effects/drug interactions, chronic allograft failure and recurrent disease is dependent on regular clinical follow-up, an accurate diagnosis and appropriate treatment.Our challenge for the future will be to develop strategies to determine the best, cost-effective regimens for an individual patient to prevent long-term graft loss. I believe the management of immunosuppression and posttransplant complications is best met with a multidisciplinary team approach. This presentation will discuss the current immunosuppressive strategies and the common post-transplant complications. It is designed to help the clinician recognize individual risk factors and provide appropriate management.
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遗传性代谢疾病的筛查诊断新进展
遗传性代谢疾病(inherited metabolic disorders),又称先天性代谢异常(inborn errors of metabolism, IEM), 是由于基因突变导致机体内生化物质在合成、代谢、转运和储存等方面出现的各种异常的总称.包括糖、氨基酸、有机酸代谢异常,尿素循环障碍,嘌呤代谢病,金属代谢病,溶酶体病,线粒体病,过氧化酶体病及卟啉、胆红素、红细胞代谢异常等[1].这类疾病单病种发病率不高,但总发病率不低.IEM种类繁多,常引起进行性和不可逆的神经系统损害,导致智力低下,在人口众多的国家或地区,对这类疾病进行早期防治可减少伤残和死亡,提高人口健康素质.过去,由于我国对遗传性代谢疾病的诊治重视不够,加上诊断方法较繁琐和技术较落后,临床和保健医师普遍缺乏相关诊治经验.本文就遗传性代谢疾病的临床症候、新生儿筛查、其他高危人群筛查的生化分析方法进展及治疗原则综述介绍如下.
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遗传代谢性疾病的临床诊治进展
先天性代谢缺陷病(inborn errors of metabolism,IEM)或称遗传性代谢病(inherited metabolic diseases,IMD)是指由于基因突变引起酶缺陷、细胞膜功能异常或受体缺陷,从而导致机体生化代谢紊乱,造成中间或旁路代谢产物蓄积,或终末代谢产物缺乏,引起一系列临床症状的一组疾病[1].IEM多为常染色体隐性遗传病,少数为常染色体显性遗传或X、Y连锁伴性遗传及线粒体遗传等.自1908年Garrod提出IEM概念以来,迄今发现的疾病已有500余种,并随诊断技术的提高而逐渐增加.IEM虽单一病种发生率较低,但群体患病率高[2].
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脂联素在心血管代谢性疾病中的作用
脂联素是由脂肪细胞分泌的一种糖蛋白,占全部血清蛋白成分的0.01%;正常人血浆浓度范围为1.9mg/L~17.0mg/L,平均血浆浓度为(8.9±1.5)mg/L,与其他细胞因子不同[1-5],首先其在肥胖人群中水平下调,其次脂联素在代谢、血管张力和炎症反应中起有益作用,而且血清脂联素水平远高于其他细胞因子,因此很难对脂联素水平进行调控,这也表明脂联素不但与高亲和性受体相连,还存在少量特异性的低亲和性靶器官.本文主要对脂联素参与的病理牛理过程,以及脂联素在心血管代谢性疾病中的作用进行简要阐述.