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Primary and secondary hyperoxaluria: Understanding the enigma 被引量:13
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作者 Bhavna Bhasin Hatice Melda ürekli Mohamed G Atta 《World Journal of Nephrology》 2015年第2期235-244,共10页
Hyperoxaluria is characterized by an increased urinary excretion of oxalate. Primary and secondary hyperoxaluria are two distinct clinical expressions of hyperoxaluria. Primary hyperoxaluria is an inherited error of m... Hyperoxaluria is characterized by an increased urinary excretion of oxalate. Primary and secondary hyperoxaluria are two distinct clinical expressions of hyperoxaluria. Primary hyperoxaluria is an inherited error of metabolismdue to defective enzyme activity. In contrast, secondary hyperoxaluria is caused by increased dietary ingestion of oxalate, precursors of oxalate or alteration in intestinal microfora. The disease spectrum extends from recurrent kidney stones, nephrocalcinosis and urinary tract infections to chronic kidney disease and end stage renal disease. When calcium oxalate burden exceeds the renal excretory ability, calcium oxalate starts to deposit in various organ systems in a process called systemic oxalosis. Increased urinary oxalate levels help to make the diagnosis while plasma oxalate levels are likely to be more accurate when patients develop chronic kidney disease. Defnitivediagnosis of primary hyperoxaluria is achieved by genetic studies and if genetic studies prove inconclusive, liver biopsy is undertaken to establish diagnosis. Diagnostic clues pointing towards secondary hyperoxaluria are a supportive dietary history and tests to detect increased intestinal absorption of oxalate. Conservative treatment for both types of hyperoxaluria includes vigorous hydration and crystallization inhibitors to decrease calcium oxalate precipitation. Pyridoxine is also found to be helpful in approximately 30% patients with primary hyperoxaluriatype 1. Liver-kidney and isolated kidney transplantation are the treatment of choice in primary hyperoxaluria type 1 and type 2 respectively. Data is scarce on role of transplantation in primary hyperoxaluria type 3 where there are no reports of end stage renal disease so far. There are ongoing investigations into newer modalities of diagnosis and treatment of hyperoxaluria. Clinical differentiation between primary and secondary hyperoxaluria and further between the types of primary hyperoxaluria is very important because of implications in treatment and diagnosis. H 展开更多
关键词 Primary hyperoxaluria TRANSPLANTATION Renal stones Secondary hyperoxaluria Renal failure
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高尿酸血症与心血管疾病 被引量:15
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作者 王连平 路娜 《中国心血管病研究》 CAS 2007年第7期518-520,共3页
目的了解心血管疾病患者中高尿酸血症的发病情况,以及血尿酸水平与心血管疾病各相关因素之间的关系。方法连续入选2006年1~10月因心血管疾病住院的患者,测定血尿酸水平,分析患者高尿酸血症发病率,并从性别、年龄等方面进行对比。结果... 目的了解心血管疾病患者中高尿酸血症的发病情况,以及血尿酸水平与心血管疾病各相关因素之间的关系。方法连续入选2006年1~10月因心血管疾病住院的患者,测定血尿酸水平,分析患者高尿酸血症发病率,并从性别、年龄等方面进行对比。结果入选的722例40~89岁心血管疾病患者中,男性高尿酸血症患病率为32.27%(111/344)、女性为30.16%(114/378),高尿酸血症的相关危险因素有冠心病、高血压、糖尿病、高甘油三酯血症、血肌酐增高,在男性患者还有高胆固醇血症,女性患者还有年龄。高尿酸血症患者合并有3种及以上危险因素的比例明显高于无高尿酸血症者,男性为38.74%比22.75%,女性为45.61%比28.03%。结论心血管疾病患者中高尿酸血症发病率高,高尿酸血症患者的心血管疾病的危险因素具有聚集性,女性患者绝经前高尿酸血症发病率低于男性、绝经后与男性无明显差别,女性高尿酸血症发病率随年龄增长而上升。 展开更多
关键词 疾病/心血管系统 高草酸尿症
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Primary Hyperoxaluria Type 1 in Adulthood: Case Series
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作者 Sara El Maakoul Nada El Kadiri +4 位作者 Nabil Hmaidouch Salma Belmokadem Loubna Benamar Tarik Bouattar Naima Ouzeddoun 《Open Journal of Nephrology》 2024年第3期350-360,共11页
Introduction: Primary hyperoxaluria type 1 (HP1) is a rare lithiasis with systemic involvement, due to the accumulation of calcium oxalate crystals. In the absence of therapeutic management, it progresses to end-stage... Introduction: Primary hyperoxaluria type 1 (HP1) is a rare lithiasis with systemic involvement, due to the accumulation of calcium oxalate crystals. In the absence of therapeutic management, it progresses to end-stage chronic renal failure. The aim of this study is to describe and analyse the observations of our patients with HP1. Patients and methods: This is a retrospective study carried out between 2014 and 2023 in the Nephrology-Dialysis Transplant Department of the Ibn Sina University Hospital in Rabat. The clinical, paraclinical and evolutionary elements were taken from the patients’ medical records. Results: We collected 11 cases, with a mean age of 27 ± 8.5 years and a M/F sex ratio of 1.7. The diagnosis of HP1 was made on the basis of genetic analysis in 8 patients, morphological and spectro-photometric analysis of the calculus in one patient, biopsy of the graft in one patient and crystalluria and a family history of PH1 in one patient. Two patients died, and 8 patients were on chronic haemdialysis with systemic damage. Only one patient maintained a stable GFR at 60 ml/min. Conclusion: Early diagnosis combined with conservative treatment is the only way to limit the rapid progression of this disease. This requires awareness and collaboration between nephrologists, urologists and biologists within a specialised team. 展开更多
关键词 Primary hyperoxaluria ADULTHOOD Kidney Disease
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不同钙、镁比例饮用水对相对高草酸尿症大鼠肾结石形成及代谢的影响 被引量:7
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作者 汪茜 周建甫 +3 位作者 李静 张秋红 吴凡宇 向松涛 《第二军医大学学报》 CAS CSCD 北大核心 2015年第6期690-695,共6页
目的探讨低于硬水标准的不同钙、镁比例饮用水对相对高草酸尿症大鼠肾结石形成及代谢的影响。方法 42只雄性Sprague-Dawley大鼠随机分成7组(n=6):空白组、模型组、高钙低镁组、中钙低镁组、低钙低镁组、低钙中镁组和低钙高镁组,空白组... 目的探讨低于硬水标准的不同钙、镁比例饮用水对相对高草酸尿症大鼠肾结石形成及代谢的影响。方法 42只雄性Sprague-Dawley大鼠随机分成7组(n=6):空白组、模型组、高钙低镁组、中钙低镁组、低钙低镁组、低钙中镁组和低钙高镁组,空白组饮用纯净水,模型组饮用0.1%乙二醇(EG)配制水,高钙低镁、中钙低镁、低钙低镁、低钙中镁、低钙高镁各干预组在模型组基础上给予不同钙、镁浓度比例的饮用水,浓度比例分别为360/10、120/10、10/10、10/40、10/80(mg/L)。各组大鼠在相同环境下饲养8周后,收集尿液、血液及双肾标本,左肾行H-E染色,光学显微镜观察草酸钙结晶情况;分别测定大鼠24h尿量、尿钙、尿镁、尿草酸、尿枸橼酸排泄量及血钙、血镁、血肌酐以及血尿素氮浓度。结果各组大鼠体质量、摄水量、24h尿量、血钙、血镁和血肌酐等差异无统计学意义。大鼠肾质量低钙低镁组、低钙中镁组均较空白组增加(P<0.05)。低钙中镁组血尿素氮较空白组、模型组升高(P<0.05)。24h尿镁排泄量低钙中镁组较空白组显著增加(P<0.05)。24h尿草酸排泄量模型组、低钙低镁组均高于空白组(P<0.01),中钙低镁组也较空白组显著升高(P<0.05);除低钙低镁组外,其余干预组24h尿草酸排泄量均低于模型组(P<0.01)。各组肾组织病理学检查均未见结晶形成,肾小球、小管细胞大小正常,排列整齐、规则,肾小管管腔无扩张,管腔内无坏死脱落样物质。结论相对高草酸尿症造模对大鼠体内钙和镁的代谢、尿结晶及成石没有影响;在饮用水硬度低于硬水标准下,随钙镁总量(硬度)升高24h尿草酸排泄量减低;单纯高草酸尿症成石草酸浓度或量需要达到一定水平才能显示成石作用;而尿枸橼酸作为结石的保护性因素,它是相对独立的,不受造模及不同钙、镁比例饮用水影响。 展开更多
关键词 饮用水 高草酸尿症 代谢
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遗传代谢性肝病的肝移植治疗 被引量:1
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作者 沈丛欢 王正昕 《器官移植》 CAS CSCD 北大核心 2024年第2期178-184,共7页
遗传代谢性肝病(IMLD)是一类基因异常导致的肝脏代谢性疾病。IMLD发病机制复杂,常见的原因包括特定酶缺陷导致有害代谢底物或产物蓄积以及糖、脂肪等物质代谢异常导致的能量缺陷或异常沉积等。近年来,随着肝移植技术的发展,肝移植在治疗... 遗传代谢性肝病(IMLD)是一类基因异常导致的肝脏代谢性疾病。IMLD发病机制复杂,常见的原因包括特定酶缺陷导致有害代谢底物或产物蓄积以及糖、脂肪等物质代谢异常导致的能量缺陷或异常沉积等。近年来,随着肝移植技术的发展,肝移植在治疗IMLD中发挥着越来越重要的作用。目前,在儿童肝移植中,IMLD已成为继胆道闭锁后的第二大适应证。目前接受肝移植治疗的IMLD患者主要分为两大类:第1类为IMLD合并肝脏病变;第2类患者肝脏结构正常,但相关代谢酶缺陷。肝移植一方面能替换结构和功能异常的肝脏,另一方面能提供患者代谢所需的正常酶,改善患者生活质量,甚至挽救患者生命。本文对常见的可行肝移植治疗的IMLD、肝移植治疗IMLD的预后及手术方式进行综述,旨在为肝移植治疗IMLD提供参考依据。 展开更多
关键词 遗传代谢性肝病 酪氨酸血症 糖原贮积症 肝豆状核变性 高草酸尿症 劈离式肝移植 多米诺肝移植 辅助式肝移植
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Antilithic Effects of Extracts from Urtica dentata Hand on Calcium Oxalate Urinary Stones in Rats 被引量:4
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作者 向明 张莎莎 +4 位作者 鲁憬莉 李璐璐 侯文睿 谢明星 曾莹 《Journal of Huazhong University of Science and Technology(Medical Sciences)》 SCIE CAS 2011年第5期673-677,共5页
This study examined the potential antilithic effects of a traditional Chinese medicine Urtica dentata Hand (UDH) in experimental rats and screened the optimal extract of UDH as a possible therapeutic agent for kidne... This study examined the potential antilithic effects of a traditional Chinese medicine Urtica dentata Hand (UDH) in experimental rats and screened the optimal extract of UDH as a possible therapeutic agent for kidney stones. The rat model of urinary calcium oxalate stones was induced by intragastric (i.g.) administration of 2 mL of 1.25% ethylene glycol (EG) and 1% ammonium chloride (AC) for 28 days and was confirmed by Color Doppler ultrasound imaging. The rats in different experimental groups were then intragastrically given petroleum ether extract (PEE), N-butanol extract (NBE), aqueous extract (AqE) of UDH, Jieshitong (positive control drug), and saline, respectively. Treatment with NBE significantly reduced the elevated levels of urinary calcium, uric acid, phosphate, as well as increased urinary output. Accordingly, the increased calcium, oxalate levels and the number of calcium oxalate crystals deposits were remarkably reverted in the renal tissue of NBE-treated rats. In addition, NBE also prevented the impairment of renal function to decrease the contents of blood urea nitrogen (BUN) and creatinine. Taken together, these data suggest that NBE of UDH has a beneficial effect on calcium oxalate urinary stones in rats by flushing the stones out and protecting renal function. 展开更多
关键词 hyperoxaluria calcium oxalate urinary stones extracts Urtica dentata Hand ethylene glycol ammonium chloride
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原发性高草酸尿症3型基因型和表型研究进展
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作者 赵振强 葛玉成 +1 位作者 刘宇坤 王文营 《国际外科学杂志》 2024年第2期133-137,共5页
原发性高草酸尿症3型(PH3)是由于HOGA1基因突变引起的一种罕见单基因肾结石病。随着基因检测技术的进步,PH3患者的基因突变位点可被明确定位,其基因型与表型特点、基因型与表型的关系也逐渐被认知;随着基因治疗技术的发展,干扰的RNA药... 原发性高草酸尿症3型(PH3)是由于HOGA1基因突变引起的一种罕见单基因肾结石病。随着基因检测技术的进步,PH3患者的基因突变位点可被明确定位,其基因型与表型特点、基因型与表型的关系也逐渐被认知;随着基因治疗技术的发展,干扰的RNA药物和基因编辑技术可能改变现有PH3的治疗方式。本文将对PH3的基因型和表型特点、基因型和表型的关系、治疗进展等进行综述。 展开更多
关键词 高草酸尿症 原发性 肾结石 基因型 表型
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原发性高草酸尿症1型7例临床分析
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作者 李作林 王彬 +7 位作者 王凤梅 倪海锋 刘玉秋 施雯 杨钧岚 谢筱彤 刘必成 张晓良 《中华内科杂志》 CAS CSCD 北大核心 2024年第8期781-786,共6页
回顾性分析2018年1月至2023年10月于东南大学附属中大医院诊断为原发性高草酸尿症1型(PH 1型)患者的临床资料。7例PH 1型患者中,男4例,女3例;起病年龄26~42岁(平均32.1岁),诊断年龄28~51岁(平均40.6岁)。7例患者均以肾结石起病,3例患者... 回顾性分析2018年1月至2023年10月于东南大学附属中大医院诊断为原发性高草酸尿症1型(PH 1型)患者的临床资料。7例PH 1型患者中,男4例,女3例;起病年龄26~42岁(平均32.1岁),诊断年龄28~51岁(平均40.6岁)。7例患者均以肾结石起病,3例患者起病时发现肾功能不全,其中2例患者发现时即进行血液透析。就诊时的症状包括骨痛7例,关节疼痛或关节畸形5例,乏力5例,低血压3例,皮下结节2例。4例患者有家族史。7例患者血红蛋白60~114 g/L,白蛋白16.5~32.1 g/L,D-二聚体2230~12781μg/L。7例患者已行维持性血液透析,行透析年龄26~50岁(平均37.7岁),自起病至进入透析时长为0~20年(平均5.6年)。5例患者反复发生透析通路功能不良。3例患者在明确诊断前行肾移植,移植肾均因草酸盐沉积而失去功能。随访4~38个月(平均14.43个月),死亡1例。7例患者均行腹部CT检查,可见骨骼病变、双侧肾脏多发结石和肾钙质沉着表现。6例患者检出AGXT基因突变,其中复合杂合变异4例,单纯纯合变异2例。变异位点为c.823-824dup.AG(p.S275Rfs*38)(exon 8)、c.815-816ins.GA(p.S275Rfs*38)(exon 8)、c.595G>A(p.G199S)(exon5)、c.32C>G(p.P11R)(exon1)、c.638C>T(p.A213V)(exon 6);经美国医学遗传学与基因组学会分级判定2个位点为可能致病变异,7个位点为致病变异,1个位点为意义未明。4例患者行组织活检,病理均表现出大量草酸盐沉积。PH 1型是一种罕见的常染色体隐性遗传病,深入理解PH 1型患者的临床特征,对早诊断早治疗具有十分重要的意义。 展开更多
关键词 高草酸尿症 原发性 遗传性疾病 高凝状态 顽固性低白蛋白血症 多器官病变
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以重度贫血、顽固性低白蛋白血症和高凝状态为临床特征的原发性高草酸尿症1例
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作者 李作林 王彬 +5 位作者 杨艳 刘玉秋 倪海锋 谢筱彤 杨钧岚 张晓良 《中华肾脏病杂志》 CAS CSCD 北大核心 2024年第4期305-309,共5页
原发性高草酸尿症(primary hyperoxaluria,PH)是一种罕见的常染色体隐性遗传病,部分患者就诊时已进入肾衰竭期,需接受肾脏替代治疗。该文报告1例以重度贫血、顽固性低白蛋白血症和高凝状态为临床特征的PH并维持性血液透析病例。经增加... 原发性高草酸尿症(primary hyperoxaluria,PH)是一种罕见的常染色体隐性遗传病,部分患者就诊时已进入肾衰竭期,需接受肾脏替代治疗。该文报告1例以重度贫血、顽固性低白蛋白血症和高凝状态为临床特征的PH并维持性血液透析病例。经增加血液透析次数、加强超滤、纠正贫血、补铁、抗凝、补充白蛋白和纠正钙磷代谢紊乱等强化对症支持治疗联合硫代硫酸钠治疗后,PH患者病情显著好转。 展开更多
关键词 高草酸尿症 原发性 贫血 低白蛋白血症 高凝状态
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应用微生物制剂缓解高草酸尿症的研究进展 被引量:2
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作者 许明月 谭卓铭 +6 位作者 王光强 熊智强 宋馨 杨昳津 张汇 艾连中 夏永军 《食品与发酵工业》 CAS CSCD 北大核心 2023年第11期288-297,共10页
草酸在人体内过度积累会导致高草酸尿症且易引发肾结石,目前尚无特效药物能够缓解高草酸尿症。肠道中存在草酸降解功能的微生物,可以通过多种途径降解人体内的草酸。肠-肾轴途径表明,正常个体的肠道微生物多样性和草酸降解菌的丰度显著... 草酸在人体内过度积累会导致高草酸尿症且易引发肾结石,目前尚无特效药物能够缓解高草酸尿症。肠道中存在草酸降解功能的微生物,可以通过多种途径降解人体内的草酸。肠-肾轴途径表明,正常个体的肠道微生物多样性和草酸降解菌的丰度显著高于高草酸尿症患者,所以增加患者肠道中的草酸降解微生物是缓解该症的潜在方法。具有降解草酸功能的产草酸甲酸杆菌、乳杆菌、链球菌和双歧杆菌等菌株已广泛用于人体内。文章总结了治疗高草酸尿症的微生物制剂及其缓解机制,包括粪便中的功能菌群、益生菌、基因工程菌等,以期为利用微生物制剂缓解高草酸尿症的相关研究提供理论参考。 展开更多
关键词 益生菌 肠道菌群 高草酸尿症 肾结石 草酸降解率
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Whipple术后继发性草酸盐肾病
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作者 徐静 郝家琪 +1 位作者 唐晓晴 潘晓霞 《肾脏病与透析肾移植杂志》 CAS CSCD 2024年第2期187-191,共5页
67岁男性患者,3年前因胰头肿瘤行Whipple术,发病前数月服用中草药茶。肾脏损害表现为血清肌酐逐渐升高伴少量蛋白尿,肾脏病理表现为肾小管间质病变(慢性基础上急性加重),肾小管腔内较多偏振光下折光呈五彩斑斓的结晶沉积,最终诊断为继... 67岁男性患者,3年前因胰头肿瘤行Whipple术,发病前数月服用中草药茶。肾脏损害表现为血清肌酐逐渐升高伴少量蛋白尿,肾脏病理表现为肾小管间质病变(慢性基础上急性加重),肾小管腔内较多偏振光下折光呈五彩斑斓的结晶沉积,最终诊断为继发性高草酸尿症所致草酸盐肾病。给予低草酸饮食、多饮水、维生素B6及消胆胺等治疗3月后肾功能好转。 展开更多
关键词 高草酸尿症 草酸盐肾病 WHIPPLE术
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Pediatric primary urolithiasis: Symptoms, medical management and prevention strategies 被引量:5
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作者 Maria Goretti Moreira Guimar?es Penido Marcelo de Sousa Tavares 《World Journal of Nephrology》 2015年第4期444-454,共11页
In the past few decades pediatric urolithiasis has become more frequent. The reason for this increase is not completely clear but has been attributed to changes in climate, nutritional habits and possibly other enviro... In the past few decades pediatric urolithiasis has become more frequent. The reason for this increase is not completely clear but has been attributed to changes in climate, nutritional habits and possibly other environ-mental factors. Although less frequent than adult stone disease, urolithiasis in the pediatric age group is also related to significant morbidity, particularly since stones tend to recur, and, thus, should not be underestimated. Most children with idiopathic stone disease have an underlying metabolic abnormality substantiating the importance of metabolic evaluation already following initial diagnosis of urolithiasis. Identification of the metabolic abnormality allows for more specifc prescription of non pharmacological and pharmacological interventions aimed at preventing recurrent stone formation. A better understanding of the causes of kidney stone disease will provide better strategies for stone prevention in children. 展开更多
关键词 UROLITHIASIS HYPERCALCIURIA CYSTINURIA hyperoxaluria Treatment Prevention
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乳酸菌降解草酸盐活性及机制研究进展 被引量:5
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作者 国立东 王丽群 +3 位作者 于纯淼 刘晓艳 焦月华 韩华 《食品科学》 EI CAS CSCD 北大核心 2018年第3期324-329,共6页
高草酸尿症是人体尿液中含有高浓度草酸盐的慢性疾病,肾脏积聚过量草酸盐会导致形成肾结石,而这与肠道菌群密切相关。乳酸菌因其具有降解草酸盐活性,可以改善机体尿草酸水平,抑制肾结石的形成,从而备受关注。具有降解草酸盐活性的乳酸... 高草酸尿症是人体尿液中含有高浓度草酸盐的慢性疾病,肾脏积聚过量草酸盐会导致形成肾结石,而这与肠道菌群密切相关。乳酸菌因其具有降解草酸盐活性,可以改善机体尿草酸水平,抑制肾结石的形成,从而备受关注。具有降解草酸盐活性的乳酸菌主要集中在乳杆菌属、双歧杆菌属和肠球菌属,其对草酸盐的降解机制可能是通过透性酶将草酸盐从胞外转运到胞内,再通过甲酰辅酶A转移酶将草酸盐转化为草酰辅酶A,然后草酰辅酶A脱羧酶将草酰辅酶A脱羧形成甲酸盐和CO2,进而完成对草酸盐的降解作用。本文综述了乳酸菌的草酸盐降解活性及其作用机制,旨在为乳酸菌产品的开发提供参考。 展开更多
关键词 肠道菌群 乳酸菌 高草酸尿症 降解草酸盐活性 机制
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Multiplex gene editing reduces oxalate production in primary hyperoxaluria type 1 被引量:1
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作者 Rui Zheng De-Xin Zhang +5 位作者 Yan-Jiao Shao Xiao-Liang Fang Lei Yang Ya-Nan Huo Da-Li Li Hong-Quan Geng 《Zoological Research》 SCIE CSCD 2023年第6期993-1002,共10页
Targeting key enzymes that generate oxalate precursors or substrates is an alternative strategy to eliminate primary hyperoxaluria type I(PH1),the most common and lifethreatening type of primary hyperoxaluria.The comp... Targeting key enzymes that generate oxalate precursors or substrates is an alternative strategy to eliminate primary hyperoxaluria type I(PH1),the most common and lifethreatening type of primary hyperoxaluria.The compact Clustered Regularly Interspaced Short Palindromic Repeats(CRISPR)from the Prevotella and Francisella 1(Cpf1)protein simplifies multiplex gene editing and allows for all-in-one adeno-associated virus(AAV)delivery.We hypothesized that the multiplex capabilities of the Cpf1system could help minimize oxalate formation in PH1 by simultaneously targeting the hepatic hydroxyacid oxidase 1(Hao1)and lactate dehydrogenase A(Ldha)genes.Study cohorts included treated PH1 rats(Agxt Q84X rats injected with AAV-AsCpf1 at 7 days of age),phosphate-buffered saline(PBS)-injected PH1 rats,untreated PH1 rats,and age-matched wild-type(WT)rats.The most efficient and specific CRISPR RNA(crRNA)pairs targeting the rat Hao1and Ldha genes were initially screened ex vivo.In vivo experiments demonstrated efficient genome editing of the Hao1 and Ldha genes,primarily resulting in small deletions.This resulted in decreased transcription and translational expression of Hao1 and Ldha.Treatment significantly reduced urine oxalate levels,reduced kidney damage,and alleviated nephrocalcinosis in rats with PH1.No liver toxicity,ex-liver genome editing,or obvious offtarget effects were detected.We demonstrated the AAVAsCpf1 system can target multiple genes and rescue the pathogenic phenotype in PH1,serving as a proof-ofconcept for the development of multiplex genome editingbased gene therapy. 展开更多
关键词 hyperoxaluria Genome editing Lactate dehydrogenase Hydroxyacid oxidase 1
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Updated Genetic Testing of Primary Hyperoxaluria Type 1 in a Chinese Population:Results from a Single Center Study and a Systematic Review 被引量:5
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作者 Dun-feng DU Qian-qian LI +7 位作者 Chen CHEN Shu-mei SHI Yuan-yuan ZHAO Ji-pin JIANG Dao-wen WANG Hui GUO Wei-jie ZHANG Zhi-shui CHEN 《Current Medical Science》 SCIE CAS 2018年第5期749-757,共9页
Primary hyperoxaluria type 1(PH1)is a rare but devastating autosomal recessive inherited disease caused by mutations in gene AGXT.Pathogenic mutations of AGXT were mostly reported in Caucasian but infrequently in Asia... Primary hyperoxaluria type 1(PH1)is a rare but devastating autosomal recessive inherited disease caused by mutations in gene AGXT.Pathogenic mutations of AGXT were mostly reported in Caucasian but infrequently in Asian,especially in Chinese.To update the genotypes of PH1 in the Chinese population,we collected and identified 7 Chinese probands with PH1 from 2013 to 2017 in our center,five of whom had delayed diagnosis and failed in kidney transplantation.Samples of peripheral blood DNA from the 7 patients and their family members were collected and sequencing analysis was performed to test the mutations of gene AGXT.Western blotting and enzyme activity analysis were conducted to evaluate the function of the mutations.Furthermore,a systematic review from 1998 to 2017 was performed to observe the genetic characteristics between Chinese and Caucasian. The results showed that a total of 12 mutations were identified in the 7 pedigrees.To the best of ourknowledge,2 novel variants of A GXT,p.Gly41 Trp and p.Leu33Met,were first reported.Bioinformatics and functional analysis showed that only 7 mutations led to a reduced expression of alanine-glyoxylate amino transferase (AGT)at a protein level.The systematic review revealed significant population heterogeneity in PH1.In conclusion,new genetic subtypes and genetic characteristics of PH1 are updated in the Chinese population. Furthermore,a genotype-phenotype correlation is found in PH1. 展开更多
关键词 PRIMARY hyperoxaluria TYPE 1 gene SEQUENCING AGXT Chinese POPULATION
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Late-onset primary hyperoxaluria type 1 in a Chinese individual with absent alanine: glyoxylate aminotransferase activity 被引量:2
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作者 黃炳南 唐美華 +3 位作者 麥肇嘉 盧建宜 黃煜 黃矩民 《Chinese Medical Journal》 SCIE CAS CSCD 2004年第12期1889-1890,共2页
关键词 end-stage renal failure · primary hyperoxaluria type 1 · renal transplantation
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复方草药制剂减轻高草酸尿导致的氧化应激及预防草酸钙沉积和大鼠肾细胞损伤(英文) 被引量:2
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作者 Kiran S. Bodakhe Kamta P Namdeo +2 位作者 Kartik C.Patra Lalit Machwal Surendra K. Pareta 《中国天然药物》 SCIE CAS CSCD 2013年第5期466-471,共6页
INTRODUCTION:Cystone is an approved Ayurvedic polyherbal proprietary medicine used in India for various urinary disorders,including urolithiasis.AIM:To evaluate the protective effect of Cystone against hyperoxaluria-i... INTRODUCTION:Cystone is an approved Ayurvedic polyherbal proprietary medicine used in India for various urinary disorders,including urolithiasis.AIM:To evaluate the protective effect of Cystone against hyperoxaluria-induced oxidative stress and calcium oxalate crystal deposition in urolithiasis.METHODS:Ethylene glycol(EG)(0.75%,V/V)in drinking water was given to rats for 28 days to induce urolithiasis with simultaneous treatment of Cystone(500 and 750 mg/kg body weight),and various urinary risk factors of urolithiasis and antioxidant markers were assessed.RESULTS:EG treatment lead to increased urine volume and lowered urinary pH,along with increased urinary excretion of oxalate,calcium and phosphate in untreated animals.These changes caused extensive calcium oxalate crystal deposition,increased lipid peroxidation and decreased activity of antioxidant enzymes(SOD,catalase and GPx)in the kidney of untreated rats.Cystone prevented these hyperoxaluric manifestations and inhibited calcium oxalate crystal deposition in treated rats at both doses.CONCLUSIONS:Cystone therapy provides protection against hyperoxaluria-induced oxidative stress and calcium oxalate crystal deposition by improving renal tissue antioxidant status and diuresis. 展开更多
关键词 UROLITHIASIS hyperoxaluria Oxidative stress Ethylene glycol Calcium oxalate Ayurveda polyherbal
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Nanocapsules of oxalate oxidase for hyperoxaluria treatment 被引量:2
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作者 Ming Zhao Duo Xu +3 位作者 Di Wu James W. Whittaker Robert Terkeltaub Yunfeng Lu 《Nano Research》 SCIE EI CAS CSCD 2018年第5期2682-2688,共7页
Enzyme therapeutics have great potential for the treatment of systemic disorders such as urolithiasis and nephrocalcinosis, which are caused by the excessive accumulation of oxalate. However, exogenous enzymes have sh... Enzyme therapeutics have great potential for the treatment of systemic disorders such as urolithiasis and nephrocalcinosis, which are caused by the excessive accumulation of oxalate. However, exogenous enzymes have short half-lives in vivo and elicit high immunogenicity, which largely limit the therapeutic outcomes. Herein, we report a delivery strategy whereby therapeutic enzymes are encapsulated within a thin zwitterionic polymer shell to form enzyme nanocapsules. The strategy is exemplified by the encapsulation of oxalate oxidase (OxO) for the treatment of hyperoxaluria, because as-synthesized OxO nanocapsules have a prolonged blood circulation half-life and elicit reduced immunogenicity. Our design of enzyme nanocapsules that enable the systemic delivery of therapeutic enzymes can be extended to various biomedical applications. 展开更多
关键词 enzyme therapeutics hyperoxaluria oxalate oxidase protein delivery long circulation NANOMEDICINE
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草酸降解酶对肠源性高草酸尿症大鼠肾草酸钙结石形成的影响研究 被引量:4
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作者 盖强强 陈忠 +6 位作者 汪成合 鲁文红 吴文起 曾国华 陈志强 杨为民 叶章群 《中华泌尿外科杂志》 CAS CSCD 北大核心 2015年第12期930-934,共5页
目的 观察草酸降解酶对肠源性高草酸尿症大鼠模型肾草酸钙结石形成的影响.方法 2014年5-6月,以8只健康大鼠为空白对照组(A组),将24只肠源性高草酸尿症大鼠按完全随机设计随机分为阳性对照组(B组)、低剂量酶灌胃组(C组)和高剂量酶... 目的 观察草酸降解酶对肠源性高草酸尿症大鼠模型肾草酸钙结石形成的影响.方法 2014年5-6月,以8只健康大鼠为空白对照组(A组),将24只肠源性高草酸尿症大鼠按完全随机设计随机分为阳性对照组(B组)、低剂量酶灌胃组(C组)和高剂量酶灌胃组(D组),每组8只.其中A组采用牛理盐水3 ml/d灌胃,B组采用4%草酸铵溶液3 ml/d灌胃,C、D组分别在B组的基础上加用20、40 U/d草酸降解酶灌胃.4组大鼠连续观察28 d,第0、7、14、21、28天测定24 h尿草酸盐浓度,第0及28天检测肾功能及尿Ca^2+、血Ca^2+浓度.第28天对A、B、D组大鼠行肾脏能谱CT扫描后,取4组大鼠肾组织切片染色观察草酸钙结晶形成情况.结果 第0天,A、B、C和D组大鼠尿草酸盐浓度分别为(0.61±0.06)、(1.58±0.15)、(1.59±0.10)、(1.64±0.20) mmol/L,后3组组间差异无统计学意义(P>0.05),且均高于A组(P<0.01).开始灌胃干预后,C、D组大鼠尿草酸盐浓度呈明显下降趋势,且D组下降更明显.第28天,4组大鼠尿草酸盐浓度分别为(0.61±0.11)、(1.64 ±0.12)、(1.17±0.12)、(0.87 ±0.11) mmol/L,C组和D组较B组均明显降低,D组较C组下降更明显,组间差异均有统计学意义(P<0.01).各组大鼠肾功能及血Ca^2+浓度均未明显改变(P>0.05).大鼠肾脏影像结果经CT后处理工作站数据分析提示,B组CT值明显高于D组(P<0.01),且两组均高于A组(P<0.01),3组的差异在低千伏能量条件下更明显.肾切片染色结果显示,B、C、D3组大鼠肾小管内均见草酸钙结晶沉积,B组最多,C组较少,D组更少,A组无明显结晶形成.结论 草酸降解酶能有效减少肠源性高草酸尿症大鼠肾草酸钙结石的形成. 展开更多
关键词 肾结石 草酸降解酶 高草酸尿症 草酸钙结石 大鼠
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A Problem-Solving in a Case of Medullary Nephrocalcinosis
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作者 Kamel El-Reshaid Shaikha Al-Bader 《Open Journal of Nephrology》 2022年第2期214-221,共8页
Medullary Nephrocalcinosis (MNC) is defined as calcium deposition in tubular basement membrane and interstitium of the kidney medulla. It is 20 times more common than cortical one. In this case report, we present a 12... Medullary Nephrocalcinosis (MNC) is defined as calcium deposition in tubular basement membrane and interstitium of the kidney medulla. It is 20 times more common than cortical one. In this case report, we present a 12-year-boy who presented with persistent nocturnal enuresis for 8 years. Physical examination and routine tests were normal except for microscopic hematuria. Renal ultrasound showed extensive MNC. Twenty-four-hour urine collection revealed normal mineral metabolic screen with low urinary excretion of calcium, phosphorous, magnesium and uric acid yet high for oxalates. Hence, and based on the above-mentioned data, certain metabolic disorders were ruled out: 1) hyperparathyroidism, 2) excessive intake of vitamin D, 3) hypercalcemia, 4) hypercalciuria, 5) hyperuricemia, 6) hyperuricosuria, 7) hypocitraturia, 8) cystinuria, 9) lysinuria and 10) distal renal tubular acidosis were ruled out. Subsequently, urine testing showed high concentration of glycolate with low glycerate and 4-hydroxy-2-oxoglutarates establishing diagnosis of type 1 primary hyperoxaluria (PH I). Further confirmatory tests included: 1) kidney biopsy which showed typical crystals deposition, 2) liver biopsy that confirmed deficiency of the liver-specific peroxisomal enzyme alanine: glyoxylate aminotransferase (AGXT), and 3) full gene analysis that confirmed gene mutation. In conclusion, our case report provides practical algorithm for establishing diagnosis in MNC which is not renal-limited and its prognosis depends upon the underlying etiology. 展开更多
关键词 HYPERCALCEMIA HYPERCALCIURIA Medullary Nephrocalcinosis MUTATION Primary hyperoxaluria
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