载脂蛋白E基因多态性与高血压肾损害及肾实质性高血压

目的　探讨载脂蛋白E(ApoE)基因多态性与高血压 (EH)肾损害及肾实质性高血压 (RH)的关系。方法　采用PCR技术 ,对黑龙江地区 4 8例高血压 -肾功能正常病人 (EH -NRF)、4 6例高血压 -肾功能衰竭病人 (EH -CRF)和 5 2例肾实质性高血压 -肾功能正常病人 (RH -NRF)、5 6例肾实质性高血压 -肾功能衰竭病人 (RH -CRF)及 5 0例健康对照者 (NC)的ApoE基因多态性进行检测。结果　共检测出 3种基因型 ,纯合子缺失型 (DD)、纯合子插入型 (II)、杂合子插入 /缺失型 (ID)。EH -NRF组与NC组比较D等位基因及DD基因型差异无显著意义 (P >0 0 5 )。EH -CRF、RH -NRF、RH -CRF组D等位基因及DD基因型频率明显高于EH -NRF、NC组 ,差异有显著意义 (P <0 0 5 ,P <0 0 0 1)。结论　ApoE基因I/D多态性与EH发生无关 ,而与EH并发症呈明显相关 ,可能参与肾损害过程。D等位基因可能是黑龙江地区汉族人肾损害的遗传危险因素 ,但不能用ApoE基因多态性来解释EH ,说明高血压并发尿毒症与尿毒症并发高血压存在不同的遗传基础。     

G蛋白偶联受体激酶4基因变异与原发性高血压的相关性

目的探讨G蛋白偶联受体激酶4基因变异与原发性高血压的关联。方法应用等位基因特异性PCR结合实时荧光分析的方法,对中国江苏南通地区102例健康人,93例原发性高血压患者的CRK 4多态位点A 486V进行基因分型,并进行关联分析。结果V等位基因频率原发性高血压组(56.9%)显著高于正常血压对照组(44.1%),差别有统计学意义(P<0.05),高血压组中V/V基因型频率(32.4%)明显高于对照组(18.3%,P<0.05)。结论在中国江苏南通地区汉族人中,GRK 4多态位点A 486V可能与原发性高血压的发病有关,V/V基因型是遗传易患因子。     

eNOS基因单核苷酸多态性与2型糖尿病合并高血压相关性的研究

目的探讨吉林地区汉族人内皮型一氧化氮合酶（eNOS）基因第7外显子单核苷酸（G894T）多态性与糖尿病合并高血压的关系。方法对35例2型糖尿病合并高血压的患者,45例单纯2型糖尿病患者,36名健康人进行对照研究。抽提人外周血中白细胞的基因组DNA应用聚合酶链反应限制片段长度多态性（PCR-RFLP）法测定eNOS基因G894T多态性,将PCR产物酶切后进行2%的琼脂糖凝胶电泳,在紫外线灯下观察荧光带并确认每例的基因型。各组间的基因型频率比较应用Hardy-Weinberg遗传平衡定律和χ2检验,等位基因频率比较应用χ2检验。结果 （1）研究对象具有群体代表性。（2）eNOS基因的第7外显子单核苷酸（G894T）多态性位点：DM＋HP组GT基因型频率和等位基因T频率显著高于NC组（χ2=11.188,P〈0.05;χ2=4.807,P〈0.05）,DM组GT基因型频率和等位基因频率与DM＋HP组与NC组无明显差异（χ2=1.923 5.518,P〉0.05;χ2=1.538 1.212,P〉0.05）。结论 eNOS基因第7外显子894G→T多态性与糖尿病合并高血压具有相关性。T等位基因是2型糖尿病合并高血压的危险因素。     

抵抗素基因启动子-420C/G多态性与非酒精性脂肪性肝病的关系

目的:探讨抵抗素基因启动子-420C/G多态性与非酒精性脂肪性肝病(NAFLD)的关系及其对血浆抵抗素水平的影响.方法:选择82例NAFLD患者(NAFLD组)和98例健康人群为研究对象(NC组),采用多聚酶链式反应限制性片段长度多态性(PCR-RFLP)技术检测不同组别抵抗素基因-420C/G位点多态性,酶联免疫方法(ELISA)测定空腹血浆抵抗素水平.结果:NAFLD组和NC组抵抗素基因-420C/G基因型和等位基因频率比较,差异有统计学意义(P<0.05);等位基因频率的相对风险分析显示,G等位基因携带者患NAFLD的相对风险是C等住基因的1.886倍;NAFLD组的血浆抵抗素水平明显高于NC组(P<0.01).结论:抵抗素基因启动子-420位点C/G多态性影响血清抵抗素水平并可能与NAFLD有关联,其中G等位基因可能是NAFLD发病的遗传易感基因.     

原发性高血压和肾性高血压患者血管紧张素Ⅱ2型受体基因单核苷酸多态性的相关性研究

目的探讨原发性高血压和肾胜高血压患者血管紧张素Ⅱ2型受体基因A1675G单核苷酸多态性与高血压发生的关系。方法应用直接测序方法对80例原发性高血压、80例肾性高血压和40名正常人群中血管紧张素U2型受体基因作SNP分型。结果原发性高血压组A等位基因频率56．88％（91／160）,对照组30．00％（24／80）,差异有统计学意义（X^2=15．44,P〈0．001）;A等位基因频率与肾性高血压无关联E42．50％（68／160）与30．00％（24／80）,X^2=3．52,P〉0．05）。基因型分析原发性高血压和肾性高血压差异均无统计学意义（P均〉0．05）。结论血管紧张素Ⅱ2型受体基因的A1675G单核苷酸多态性与原发性高血压发病有关。与肾性高血压无关。     

β1肾上腺素能受体基因多态性对高血压心肌肥厚的影响

目的探讨β1肾上腺素能受体(β1-AR)G1165C位点和A145G位点基因多态性对高血压患者心肌肥厚的影响。方法选取体检正常者115例,高血压伴心肌肥厚患者113例,高血压不伴心肌肥厚患者114例,提取外周静脉血白细胞中的DNA,运用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)。对受试者β1-AR G1165C和A145G位点的基因多态性进行检测。结果 1β1-AR 1165C等位基因的发生频率,高血压不伴心肌肥厚组78.5%、高血压伴心肌肥厚组89.8%,差异有统计学意义(P0.05);145G等位基因的发生频率,高血压不伴心肌肥厚组16.7%、高血压伴心肌肥厚组16.8%,差异无统计学意义(P0.05)。2高血压伴心肌肥厚组的左心室心肌质量指数,1165G等位基因者(123.78±5.12)g/m2,1165C等位基因者(154.16±47.82)g/m2,差异有统计学意义(P0.05);145A等位基因者(150.85±46.88)g/m2,145G等位基因者(152.11±44.31)g/m2,差异无统计学意义(P0.05)。结论β1-AR G1165C基因多态性参与高血压患者心肌肥厚的发生和肥厚程度的调节,A145G基因多态性与高血压患者的心肌肥厚无相关性。     

β肾上腺素能受体基因多态性与原发性高血压的关系

目的:β肾上腺素能受体包括β1,β2和β3三种亚型,分析其基因多态性与原发性高血压的关系。方法:试验于2003-02/2005-09在重庆医科大学生物医学工程研究室进行。选择在清华大学第一附属医院和重庆医科大学第二附属医院就诊和体检的150例原发性高血压患者,男80例,女70例,年龄(56.53±5.60)岁;130例正常对照者,男70例,女60例,年龄(55.62±8.63)岁,对试验均知情同意。测试受试者坐位血压。用聚合酶链反应-限制性片段长度多态性技术和等位基因特异性聚合酶链反应法分析β1-肾上腺素能受体的Ser49Gly和Arg389Gly,β2-肾上腺素能受体的Arg16Gly和Gln27Glu,β3-肾上腺素能受体的Trp64Arg基因多态性,并分析其基因多态性与原发性高血压的相关性。结果:①β1-389原发性高血压组和对照组的Arg/Arg,Arg/Gly和Gly/Gly基因型频率分别为:0.56,0.32,0.12和0.74,0.22,0.04(P<0.05),Arg和Gly的等位基因频率在原发性高血压组和对照组分别为0.72,0.28和0.85,0.15,两组间差异显著(P<0.05)(OR=0.45,95%可信区间:0.30-0.69)。②β2-16原发性高血压组和对照组的Arg/Arg,Arg/Gly和Gly/Gly基因型频率分别为:0.17,0.67,0.16和0.27,0.69,0.04(P<0.05)。Arg和Gly的等位基因频率在原发性高血压组和对照组分别为0.51,0.49和0.62,0.38,两组间差异显著(P<0.05)(OR=0.64,95%可信区间:0.46～0.90)。③β1-肾上腺素能受体的Ser49Gly,β2-肾上腺素能受体的Gln27Glu,β3-肾上腺素能受体的Trp64Arg的基因型频率和等位基因频率在原发性高血压组和对照组之间差异无显著性(P>0.05)。所有组的基因多态性分布均符合Hardy-Weinberg定律。结论:在所研究的中国人群中,β1-389Arg/Gly和β2-16Arg/Gly基因多态性与原发性高血压的发病有联系。     

肿瘤坏死因子-α基因启动子区域多态与冠心病的相关性

目的:研究肿瘤坏死因子α(tumor necrosis factor-alpha,TNF-α)基因启动子区域的3种单核苷酸多态与上海地区汉族人冠心病发病的相关性。方法:采用基质辅助激光解吸附电离飞行时间质谱(MALDI-TOF)检测方法,对286例冠心病患者(其中心肌梗死患者101例,为心肌梗死亚组)和202名健康对照者(对照组)的TNF-α基因启动子区域C-863A、G-308A、G-238A多态进行基因分型。结果:C-863A、G-308A、G-238A多态的基因型分布及其等位基因频率在冠心病患者与对照组间相比,差异均无统计学意义(P>0.05),且在不同病变组(指根据冠状动脉受累血管支数,分为单支病变组和多支病变组)间亦无显著性差异(P>0.05)。心肌梗死亚组患者G-308A和G-238A多态的基因型分布与对照组相比,差异有统计学意义(P=0.041和0.023),但其G、A等位基因频率在2组间差异均无统计学意义(P>0.05)。心肌梗死患者携带-308AA基因型的频率明显低于对照组(7.00%比13.07%,P<0.05)。结论:TNF-α基因启动子区域的G-308A和G-238A多态可能与上海地区汉族人心肌梗死的发生相关,其中-308A等位基因可能降低心肌梗死的发生。     

中国西南地区汉族人群肿瘤坏死因子基因多态性与鼻咽癌遗传易感性

目的:分析肿瘤坏死因子基因多态性分布与中国西南地区汉族人群鼻咽癌易感性的关系。方法:选择2000-10/2005-09在华西医科大学第一附属医院就诊的100例鼻咽癌患者为鼻咽癌组,均经过病理科活检确诊,其中包括未治疗44例,放疗后37例,放疗加化疗后19例,选择100名同期入院健康体检者为对照组。所有受试对象为中国西南地区汉族人,均对检测项目知情同意。采用聚合酶链反应-限制性片段长度多态性的方法检测100例中国西南地区汉族鼻咽癌患者和100名健康对照者肿瘤坏死因子α基因启动子区-308位点及肿瘤坏死因子β基因第一内含子252位点的等位基因以及基因型频率,分析两位点多态性与鼻咽癌遗传易感性的关系。结果:鼻咽癌组患者肿瘤坏死因子β( 252)位点G/A杂合子基因型频率显著高于对照组(57%,29%,P<0.01),野生型(G/G基因型)频率低于健康对照组(23%,51%,P<0.01),等位基因A的频率高于健康对照组(48.5%,13%,P<0.01);肿瘤坏死因子α(-308)位点基因型以及等位基因频率与对照组相比较无统计学差异。结论:本实验人群中未发现肿瘤坏死因子α(-308)位点多态性与鼻咽癌易感性无关;肿瘤坏死因子β( 252)位点基因多态性与鼻咽癌具有相关性,A等位基因可能是鼻咽癌的遗传易感基因,G/A杂合子基因型个体较易患鼻咽癌。     

血管紧张素系统相关基因多态性与妊娠期高血压疾病的相关性研究

目的探讨胎儿血管紧张素原(AGT)基因T174M、血管紧张素转换酶(ACE)基因插入/缺失(I/D)、血管紧张素Ⅱ-1型受体(AT1R)基因A1166C多态性与妊娠期高血压疾病(HDCP)的相关性。方法采用聚合酶链反应-限制性片段长度多态(PCR-RFLP)技术分别检测67例妊娠期高血压疾病孕妇(HDCP组,其中妊娠期高血压组12例和子痫前期组55例)与70例正常孕妇(对照组)的胎盘的T174M、A1166C突变位点和ACEI/D多态性的基因型。结果(1)HDCP组、妊娠期高血压组和子痫前期组分别和对照组比较,AGT基因型频率和等位基因频率差异均无统计学意义(P均>0.05)。(2)相对于AA基因型,HDCP组和子痫前期组AT1RAC基因型人群的OR值分别为3.241和3.667,子痫前期组C等位基因相对A等位基因的OR值为3.400。(3)相对于Ⅱ基因型,HDCP组和子痫前期组ACEDD基因型人群的OR值分别为2.899和3.429;D等位基因相对于I等位基因的OR值分别为1.76和1.90。(4)2组ACE和AT1R联合基因分析:相对于Ⅱ-AA联合基因型,同时携带AC-DD和AC-DI联合基因型OR值为7.5。结论胎儿AGT基因T174M多态性可能与HDCP的发生无关联;胎儿AT1R基因A1166C和ACEI/D多态性均与HDCP的发生可能有关,胎儿ACE基因缺失及AT1R基因A1166C多态性可能共同对HDCP的发生发展起作用。     

Ruptured renal angiomyolipoma presenting as renal colic

The case of a patient with acute onset of flank pain and hematuria is presented. Initial therapy was directed toward relief of pain believed to be caused by renal colic. It was not until the patient developed atypical features that the true diagnosis, ruptured renal angiomyolipoma, was discovered. The case and discussion emphasize the need to carefully consider a complete differential diagnosis when evaluating patients with flank pain and hematuria who have atypical clinical features or an atypical course.     

Functional renal imaging: nonvascular renal disease

Functional renal imaging—a fast-growing field of MR-imaging—applies different sequence types to gather information about the kidneys other than morphology and angiography. This update article presents the current status of different functional imaging approaches and presents current and potential clinical applications. Apart from conventional in-phase and opposed-phase imaging, which already yields information about the tiusse composition, BOLD (blood-oxygenation level dependent) sequences, DWI (diffusion-weighted imaging) sequences, perfusion measurements, and dedicated contrast agents are used.     

Cortical renal leiomyoma with extension to renal pelvis

We describe a case of renal leiomyoma in a 21-year-old woman who presented with flank pain and hematuria. Urographic and computed tomographic (CT) studies revealed a large right renal mass with polypoid outgrowth protruding into the renal pelvis. Cortical renal leiomyoma with this radiographic manifestation is extremely rare.     

Cardiac enzymes, renal failure and renal transplantation

Diagnostic accuracy of the currently available serum markers of cardiac injury, such as myoglobin, creatine kinase and its myocardial isoform, are altered in patients with renal failure. It is shown that cardiac troponins have decreased diagnostic sensitivity and specificity in patients receiving renal replacement therapy. Data regarding serum levels of these cardiac biomarkers, especially those of the cardiac troponins, in patients with a transplanted kidney are limited. Current data show that levels of cardiac troponin I are unaltered in patients who have undergone renal transplantation, while levels of cardiac troponin T may be elevated.We believe that cardiac troponin I should be the biomarker of choice for diagnosis of myocardial injury in these patients. However, further trials are required for conclusive results.     

Epidemiology of renal recovery after acute renal failure

PURPOSE OF REVIEW: Recovery of renal function after acute renal failure is an important clinical determinant of patient morbidity. Herein, the epidemiology of renal recovery after acute renal failure will be described, along with potential predictive factors and interventions. RECENT FINDINGS: Renal recovery has been variably defined, most often as recovery to independence from renal replacement therapy. A recent consensus definition for acute renal failure has been published and included provisions for defining renal recovery. Renal recovery to renal replacement therapy independence occurs in the majority by hospital discharge and peaks by 90 days. All of older age, female sex, co-morbid illnesses, especially chronic kidney disease, and late initiation of renal replacement therapy or conventional intermittent renal replacement therapy have been coupled with non-recovery. Analysis of the literature suggests several interventions may influence recovery. SUMMARY: The prognosis is generally good for recovery after acute renal failure. Most patients will be independent of renal replacement therapy by 90 days. Additional research is necessary, however, to understand recovery rates not only to independence from renal replacement therapy, but also to complete and partial recovery. Future studies need to consider the health economic implications for survival and non-recovery. Finally, questions on the role of various interventions require characterization in randomized controlled trials to determine how they may influence renal prognosis.     

Biomarkers of acute renal injury and renal failure

Acute renal failure (ARF) is a frequent problem in the intensive care unit and is associated with a high mortality. Early recognition could help clinical management, but current indices lack sufficient predictive value for ARF. Therefore, there might be a need for biomarkers in detecting renal tubular injury and/or dysfunction at an early stage before a decline in glomerular filtration rate is noted by an increased serum creatinine. A MEDLINE/PubMed search was performed, including all articles about biomarkers for ARF. All publication types, human and animal studies, or subsets were searched in English language. An extraction of relevant articles was made for the purpose of this narrative review. These biomarkers include tubular enzymes (alpha- and pi-glutathione S-transferase, N-acetyl-glucosaminidase, alkaline phosphatase, gamma-glutamyl transpeptidase, Ala-(Leu-Gly)-aminopeptidase, and fructose-1,6-biphosphatase), low-molecular weight urinary proteins (alpha1- and beta2-microglobulin, retinol-binding protein, adenosine deaminase-binding protein, and cystatin C), Na+/H+ exchanger, neutrophil gelatinase-associated lipocalin, cysteine-rich protein 61, kidney injury molecule 1, urinary interleukins/adhesion molecules, and markers of glomerular filtration such as proatrial natriuretic peptide (1-98) and cystatin C. These biomarkers, detected in urine or serum shortly after tubular injury, have been suggested to contribute to prediction of ARF and need for renal replacement therapy. However, excretion of these biomarkers may also increase after reversible and mild dysfunction and may not necessarily be associated with persistent or irreversible damage. Large prospective studies in human are needed to demonstrate an improved outcome of biomarker-driven management of the patient at risk for ARF.     

急性肾功能损伤与衰竭生物标志物

急性肾功能损伤（ARI）与急性肾功能衰竭（ARF）是加强医疗病房（ICU）的常见疾病．ICU中80％的ARF由急性肾小管损伤所致，而非肾小球或间质性病变引起。其死亡率较高，寻找敏感性和特异性较好的ARI或ARF生物标志物，对早期诊断、治疗和改善预后有着重要意义。本文介绍和评估了ARI或 ARF生物标志物的研究现状。并展望了其未来的前景。[第一段]     

Normal left renal vein mimicking left renal artery aneurysm

On transverse ultrasound scans a small number of patients with a paucity of retroperitoneal fat show an initial false impression of a left renal artery aneurysm due to the confluence of two normal findings. The left renal vein is unusually prominent from the hilum of the left kidney to the area between the superior mesenteric artery and the aorta; and part of the normal aortic wall, adjacent to the left renal vein, is incompletely imaged. Explanations for the prominence in the left renal vein and the partial visualization of the aortic wall are discussed, and various maneuvers that allow for accurate identification of both are described. The use of this analysis should prevent the incorrect diagnosis of a left renal artery aneurysm, which might lead to more invasive diagnostic procedures.