Journal of clinical & experimental nephrology最新文献

筛选

英文中文

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

{"title":"Genetic Mutations in Autosomal Dominant Polycystic Kidney Disease Type-1","authors":"ra Sanwal, K. Nooruddin, C. Patel, Tiannan Zhang, Anita P. Bhagavathula, S. Gates, A. Guzman","doi":"10.21767/2472-5056.100074","DOIUrl":"https://doi.org/10.21767/2472-5056.100074","url":null,"abstract":"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.","PeriodicalId":91531,"journal":{"name":"Journal of clinical & experimental nephrology","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.21767/2472-5056.100074","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"68148272","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

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

{"title":"Length of Interdialytic Intervals Affects Morbidity and Mortality in Chronic Haemodialysis Patients.","authors":"Jalal E Hakmei, Paul J Nietert, Wayne R Fitzgibbon, Michael E Ullian","doi":"10.21767/2472-5056.100038","DOIUrl":"10.21767/2472-5056.100038","url":null,"abstract":"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.","PeriodicalId":91531,"journal":{"name":"Journal of clinical & experimental nephrology","volume":"2 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2017-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6746406/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41390176","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

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

{"title":"Typical Hus: Evidence of Acute Phase Complement Activation from a Daycare Outbreak.","authors":"Tammy M Brady, Cozumel Pruette, Lauren F Loeffler, Darcy Weidemann, John J Strouse, Eleni Gavriilaki, Robert A Brodsky","doi":"10.21767/2472-5056.100011","DOIUrl":"https://doi.org/10.21767/2472-5056.100011","url":null,"abstract":"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.","PeriodicalId":91531,"journal":{"name":"Journal of clinical & experimental nephrology","volume":"1 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2016-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.21767/2472-5056.100011","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"34666552","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 23