Journal of clinical & experimental nephrology最新文献

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Genetic Mutations in Autosomal Dominant Polycystic Kidney Disease Type-1 常染色体显性多囊肾病1型的基因突变

Journal of clinical & experimental nephrology

Pub Date : 2019-01-01 DOI: 10.21767/2472-5056.100074

ra Sanwal, K. Nooruddin, C. Patel, Tiannan Zhang, Anita P. Bhagavathula, S. Gates, A. Guzman

Polycystic kidney disease (PKD) is mainly characterized by formation of cysts in kidney with associated kidney malfunction. The cysts eventually grow larger leading to end stage renal failure (ESRF) requiring kidney dialysis or transplant. There are various genetic forms of PKD: autosomal dominant type 1 (ADPKD1), type 2 (ADPKD2) and even a third type (ADPKD3) is known to exist. There is also a recessive form of PKD (ARPKD). The autosomal dominant type is caused due a single defective dominant gene in a single chromosome of the homologous pair among the autosomes and the recessive type is caused due to defect in both genes of a homologous pair. Each of these PKD types adversely impact structure and function of their associated protein products. For instance, ADPKD1 impacts polycystin-1, ADPKD2 impacts polycystin-2, and ARPKD impacts fibrocystin. There are several known mutations for each of these PKD disease types, e.g., there are over 250 known mutations of ADPKD1 gene. In this paper we restrict ourselves to ADPKD1 and a specific mutation (L845S) to demonstrate how a genetic mutation leads to malfunction of PKD1 gene.

多囊肾病(PKD)的主要特征是肾脏内形成囊肿并伴有肾功能障碍。囊肿最终变大，导致终末期肾功能衰竭(ESRF)，需要肾脏透析或移植。PKD有多种遗传形式:常染色体显性1型(ADPKD1)， 2型(ADPKD2)，甚至已知存在第三型(ADPKD3)。PKD还有一种隐性形式(ARPKD)。常染色体显性型是由常染色体中同源对的单个染色体上的单个显性基因缺陷引起的，隐性型是由同源对的两个基因缺陷引起的。这些PKD类型中的每一种都对其相关蛋白产物的结构和功能产生不利影响。例如，ADPKD1影响多囊蛋白-1,ADPKD2影响多囊蛋白-2,ARPKD影响纤维囊蛋白。每种PKD疾病类型都有几个已知的突变，例如，已知的ADPKD1基因突变超过250个。在本文中，我们仅限于ADPKD1和一个特定的突变(L845S)来证明一个基因突变如何导致PKD1基因的功能障碍。

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引用次数: 1

Length of Interdialytic Intervals Affects Morbidity and Mortality in Chronic Haemodialysis Patients. 透析间隔时间长短影响慢性血液透析患者的发病率和死亡率

Journal of clinical & experimental nephrology

Pub Date : 2017-01-01 Epub Date: 2017-06-15 DOI: 10.21767/2472-5056.100038

Jalal E Hakmei, Paul J Nietert, Wayne R Fitzgibbon, Michael E Ullian

Background: Chronic in-center hemodialysis (HD) patients may experience more morbidity and mortality after the weekend. Since our Veterans Administration Hospital HD unit is closed on the weekend, non-traditional HD schedules were created. Some schedules contained a 4-day weekend compared to the usual 3-day weekend. We hypothesized that there are more frequent cardiovascular events (CVEs) and higher mortality after longer interdialytic intervals.

Methods: Patients (n=85) were placed on HD schedules as they became available. The usual interdialytic interval group consisted of patients dialyzing on Mon-Wed-Fri or Mon-Tue-Fri (longest interdialytic gap 3 days, n=29), and the long interdialytic interval group consisted of patients dialyzing on Mon-Wed-Thu, Mon-Tue-Thu, Tue-Wed-Fri, or Tue-Thu-Fri (longest interdialytic gap 4 days, n=56).

Results: All-cause mortality was not different between groups, and CVEs occurred more frequently in the usual interdialytic interval group (maybe due to higher mean potassium and phosphorus concentrations). However, within each group, a similar pattern of CVE occurrence as a function of time after dialysis was observed. Compared to CVEs occurring during the 2 days after HD (the lowest frequency), CVEs occurred 2-3 times more frequently during and immediately after HD and 5-7 times more frequently during the third and fourth days after HD. The greatest risk of CVE occurred during the fourth day after HD, which exists only in the long interdialytic interval group.

Conclusion: In chronic HD patients, CVEs are most likely to occur after the longest interdialytic intervals.

背景:慢性中心血液透析(HD)患者在周末后可能会有更高的发病率和死亡率。由于我们的退伍军人管理局医院在周末关闭，因此创建了非传统的医院时间表。与通常的3天周末相比，一些时间表包含了4天的周末。我们假设在较长的透析间隔时间后会有更频繁的心血管事件(cve)和更高的死亡率。方法85例患者在有条件时接受HD治疗。常规透析间隙组为周一至周三至周五或周一至周二至周五透析的患者(最长透析间隙3天，n=29)，长透析间隙组为周一至周三至周四、周一至周二至周四、周二至周三至周五或周二至周四透析的患者(最长透析间隙4天，n=56)。结果两组间全因死亡率无显著差异，正常透析间期组cve发生率较高(可能是由于平均钾、磷浓度较高)。然而，在每组中，观察到透析后CVE发生的模式与时间的函数相似。与HD后2天(最低频率)发生的cve相比，HD期间和之后立即发生cve的频率高出2 - 3倍，HD后第3天和第4天发生cve的频率高出5-7倍。CVE发生的最大风险发生在HD后第4天，仅存在于长透析间期组。结论慢性HD患者最易发生cve的时间为最长的透析间隔时间。

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引用次数: 0

Typical Hus: Evidence of Acute Phase Complement Activation from a Daycare Outbreak. 典型的Hus:日托中心爆发急性期补体激活的证据。

Journal of clinical & experimental nephrology

Pub Date : 2016-01-01 Epub Date: 2016-05-06 DOI: 10.21767/2472-5056.100011

Tammy M Brady, Cozumel Pruette, Lauren F Loeffler, Darcy Weidemann, John J Strouse, Eleni Gavriilaki, Robert A Brodsky

The clinical manifestations of typical hemolytic uremic syndrome (HUS) encompass a wide spectrum. Despite the potentially severe sequelae from this syndrome, treatment approaches remain supportive. We present the clinical course of a child who contracted Shiga toxin-positive E. coli (STEC) from a daycare center during an outbreak. Utilizing the modified Ham test which is a rapid, serum-based functional assay used to detect activation of the alternative pathway of complement as observed in atypical HUS, patient sera revealed evidence of increased complement activation in the acute phase of the syndrome but not after resolution. Further, this complement activation was attenuated by eculizumab in vitro, an effect that was replicated in vitro utilizing Shiga toxin as a stimulus of complement activation in normal serum. Our report suggests that complement blockade may be effective in the treatment of STEC-HUS when initiated early in the disease. Given the epidemic nature of the disease that limits the feasibility of randomized clinical trials, further studies are needed to determine the value of early eculizumab treatment in STEC-HUS.

典型溶血性尿毒症综合征(HUS)的临床表现广泛。尽管这种综合征可能有严重的后遗症，但治疗方法仍然是支持性的。我们提出了一个儿童谁感染志贺毒素阳性大肠杆菌(STEC)从日托中心期间爆发的临床过程。改良的Ham检测是一种快速的、基于血清的功能检测，用于检测非典型溶血性尿毒综合征中补体替代途径的激活，患者血清显示在综合征急性期补体激活增加的证据，但在缓解后没有。此外，这种补体激活在体外被eculizumab减弱，这一效果在体外被复制，利用志贺毒素作为正常血清中补体激活的刺激。我们的报告表明，如果在疾病早期开始，补体阻断可能对STEC-HUS的治疗有效。鉴于该疾病的流行性质限制了随机临床试验的可行性，需要进一步的研究来确定早期eculizumab治疗STEC-HUS的价值。

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