For Publishers
DiscoveryMetadataPeer reviewHostingPublishing
For Researchers
JoinPublishReviewCollect
Register
Blog
About
Search
Advanced search
My ScienceOpen
Search
For Publishers
For Researchers
Blog
About
5
views
25
references
 Top references
cited by
0
    
0 reviews
 Review
0
comments
 Comment
0
recommends
+1 Recommend
0 collections
    0
    shares
      301
      similar
       All similar
      • Record: found
      • Abstract: found
      • Article: found
      Is Open Access

      A case of patient with renal lupus with an initial presentation of hemolytic uremic syndrome triggered by streptococcal infection

      case-report

      Read this article at

      ScienceOpenPublisherPMC
      Bookmark
          There is no author summary for this article yet. Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience.

          Key Clinical Message

          Systemic lupus erythematosus (SLE) is a systemic disease that is presented in a myriad of ways. Renal involvement is common in SLE and usually presents clinically as glomerulonephritis. We describe patients with SLE presented initially with hemolytic uremic syndrome which is a distinctive initial presentation.

          Related collections

          Most cited references25

          • Record: found
          • Abstract: found
          • Article: not found

          Genetics of HUS: the impact of MCP, CFH, and IF mutations on clinical presentation, response to treatment, and outcome.

          Jessica Caprioli, Marina Noris, Simona Brioschi … (2006)
          Hemolytic uremic syndrome (HUS) is a thrombotic microangiopathy with manifestations of hemolytic anemia, thrombocytopenia, and renal impairment. Genetic studies have shown that mutations in complement regulatory proteins predispose to non-Shiga toxin-associated HUS (non-Stx-HUS). We undertook genetic analysis on membrane cofactor protein (MCP), complement factor H (CFH), and factor I (IF) in 156 patients with non-Stx-HUS. Fourteen, 11, and 5 new mutational events were found in MCP, CFH, and IF, respectively. Mutation frequencies were 12.8%, 30.1%, and 4.5% for MCP, CFH, and IF, respectively. MCP mutations resulted in either reduced protein expression or impaired C3b binding capability. MCP-mutated patients had a better prognosis than CFH-mutated and nonmutated patients. In MCP-mutated patients, plasma treatment did not impact the outcome significantly: remission was achieved in around 90% of both plasma-treated and plasma-untreated acute episodes. Kidney transplantation outcome was favorable in patients with MCP mutations, whereas the outcome was poor in patients with CFH and IF mutations due to disease recurrence. This study documents that the presentation, the response to therapy, and the outcome of the disease are influenced by the genotype. Hopefully this will translate into improved management and therapy of patients and will provide the way to design tailored treatments.
          Article 0 comments Cited 179 times – based on 0 reviews     Review now
            Bookmark
            • Record: found
            • Abstract: found
            • Article: found
            Is Open Access

            Thrombotic microangiopathy and associated renal disorders*

            Thomas Barbour, Sally Johnson, Solomon Cohney … (2012)
            Thrombotic microangiopathy (TMA) is a pathological process involving thrombocytopenia, microangiopathic haemolytic anaemia and microvascular occlusion. TMA is common to haemolytic uraemic syndrome (HUS) associated with shiga toxin or invasive pneumococcal infection, atypical HUS (aHUS), thrombotic thrombocytopenic purpura (TTP) and other disorders including malignant hypertension. HUS complicating infection with shiga toxin-producing Escherichia coli (STEC) is a significant cause of acute renal failure in children worldwide, occurring sporadically or in epidemics. Studies in aHUS have revealed genetic and acquired factors leading to dysregulation of the alternative complement pathway. TTP has been linked to reduced activity of the ADAMTS13 cleaving protease (typically with an autoantibody to ADAMTS13) with consequent disruption of von Willebrand factor multimer processing. However, the convergence of pathogenic pathways and clinical overlap create diagnostic uncertainty, especially at initial presentation. Furthermore, recent developments are challenging established management protocols. This review addresses the current understanding of molecular mechanisms underlying TMA, relating these to clinical presentation with an emphasis on renal manifestations. A diagnostic and therapeutic approach is presented, based on international guidelines, disease registries and published trials. Early treatment remains largely empirical, consisting of plasma replacement/exchange with the exception of childhood STEC-HUS or pneumococcal sepsis. Emerging therapies such as the complement C5 inhibitor eculizumab for aHUS and rituximab for TTP are discussed, as is renal transplantation for those patients who become dialysis-dependent as a result of aHUS.
            Article 0 comments Cited 59 times – based on 0 reviews     Review now
              Bookmark
              • Record: found
              • Abstract: found
              • Article: not found

              Atypical hemolytic uremic syndrome in children: complement mutations and clinical characteristics

              Lianne Geerdink, Dineke Westra, Joanna A. E. van Wijk … (2012)
              Background Mutations in complement factor H (CFH), factor I (CFI), factor B (CFB), thrombomodulin (THBD), C3 and membrane cofactor protein (MCP), and autoantibodies against factor H (αFH) with or without a homozygous deletion in CFH-related protein 1 and 3 (∆CFHR1/3) predispose development of atypical hemolytic uremic syndrome (aHUS). Methods Different mutations in genes encoding complement proteins in 45 pediatric aHUS patients were retrospectively linked with clinical features, treatment, and outcome. Results In 47% of the study participants, potentially pathogenic genetic anomalies were found (5xCFH, 4xMCP, and 4xC3, 3xCFI, 2xCFB, 6xαFH, of which five had ∆CFHR1/3); four patients carried combined genetic defects or a mutation, together with αFH. In the majority (87%), disease onset was preceeded by a triggering event; in 25% of cases diarrhea was the presenting symptom. More than 50% had normal serum C3 levels at presentation. Relapses were seen in half of the patients, and there was renal graft failure in all except one case following transplant. Conclusions Performing adequate DNA analysis is essential for treatment and positive outcome in children with aHUS. The impact of intensive initial therapy and renal replacement therapy, as well as the high risk of recurrence of aHUS in renal transplant, warrants further understanding of the pathogenesis, which will lead to better treatment options.
              Article 0 comments Cited 55 times – based on 0 reviews     Review now
                Bookmark
                All references

                Author and article information

                Contributors
                Osama Y. Safdar:
                ORCID: http://orcid.org/0000-0002-7773-6687
                safderosama@hotmail.com
                Journal
                Journal ID (nlm-ta): Clin Case Rep
                Journal ID (iso-abbrev): Clin Case Rep
                Journal ID (doi): 10.1002/(ISSN)2050-0904
                Journal ID (publisher-id): CCR3
                Title: Clinical Case Reports
                Publisher: John Wiley and Sons Inc. (Hoboken )
                ISSN (Electronic): 2050-0904
                Publication date (Electronic): 01 March 2018
                Publication date Collection: April 2018
                Volume: 6
                Issue: 4 ( doiID: 10.1002/ccr3.2018.6.issue-4 )
                Pages: 712-718
                Affiliations
                [ 1 ] College of medicine King Abdulaziz University Jeddah Saudi Arabia
                [ 2 ] Faculty of Medicine Pediatric Nephrology Center of Excellence King Abdulaziz University Jeddah Saudi Arabia
                Author notes
                [*] [* ] Correspondence

                Osama Y. Safder, King Abdulaziz University, PO Box 80215, Jeddah 21589, Saudi Arabia. Tel: 00966505620849; Fax: 00966(2) 6655728; E‐mail: safderosama@ 123456hotmail.com

                Author information
                http://orcid.org/0000-0002-7773-6687
                Article
                Publisher ID: CCR31425
                DOI: 10.1002/ccr3.1425
                PMC ID: 5889269
                PubMed ID: 29636946
                SO-VID: 098ec043-6c4b-49c2-8076-52a08dd5c990
                Copyright © © 2018 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd.
                License:

                This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.

                History
                Date received : 22 July 2016
                Date revision received : 30 August 2017
                Date accepted : 05 January 2018
                Page count
                Figures: 6, Tables: 2, Pages: 7, Words: 4084
                Categories
                Subject: Case Report
                Subject: Case Reports
                Custom metadata
                source-schema-version-number 2.0
                component-id ccr31425
                cover-date April 2018
                details-of-publishers-convertor Converter:WILEY_ML3GV2_TO_NLMPMC version:version=5.3.4 mode:remove_FC converted:06.04.2018

                Keywords: hemolytic uremic syndrome,lupus nephritis,systemic lupus erythematosus,thrombotic microangiopathy
                Data availability:
                Keywords: hemolytic uremic syndrome, lupus nephritis, systemic lupus erythematosus, thrombotic microangiopathy

                Comments

                Comment on this article

                scite_

                Similar content301

                See all similar

                Most referenced authors452

                See all reference authors