Literature DB >> 33536243

Inherited Kidney Complement Diseases.

Mathieu Lemaire1,2,3, Damien Noone4,3, Anne-Laure Lapeyraque5,6, Christoph Licht4,2,3, Véronique Frémeaux-Bacchi7.   

Abstract

In the past 20 years, we have witnessed tremendous advances in our ability to diagnose and treat genetic diseases of the kidney caused by complement dysregulation. Staggering progress was realized toward a better understanding of the genetic underpinnings and pathophysiology of many forms of atypical hemolytic uremic syndrome (aHUS) and C3-dominant glomerulopathies that are driven by complement system abnormalities. Many of these seminal discoveries paved the way for the design and characterization of several innovative therapies, some of which have already radically improved patients' outcomes. This review offers a broad overview of the exciting developments that have occurred in the recent past, with a particular focus on single-gene (or Mendelian), complement-driven aHUS and C3-dominant glomerulopathies that should be of interest to both nephrologists and kidney researchers. The discussion is restricted to genes with robust associations with both aHUS and C3-dominant glomerulopathies (complement factor H, complement component 3, complement factor H-related proteins) or only aHUS (complement factor B, complement factor I, and membrane cofactor protein). Key questions and challenges are highlighted, along with potential avenues for future directions.
Copyright © 2021 by the American Society of Nephrology.

Entities:  

Keywords:  complement; genetic renal disease; glomerulopathy; hemolytic uremic syndrome; human genetics; immune complexes; membranoproliferative glomerulonephritis (MPGN)

Mesh:

Substances:

Year:  2021        PMID: 33536243      PMCID: PMC8216622          DOI: 10.2215/CJN.11830720

Source DB:  PubMed          Journal:  Clin J Am Soc Nephrol        ISSN: 1555-9041            Impact factor:   10.614


  119 in total

1.  Genetic heterogeneity in human disease.

Authors:  Jon McClellan; Mary-Claire King
Journal:  Cell       Date:  2010-04-16       Impact factor: 41.582

2.  A Familial C3GN Secondary to Defective C3 Regulation by Complement Receptor 1 and Complement Factor H.

Authors:  Sophie Chauvet; Lubka T Roumenina; Sarah Bruneau; Maria Chiara Marinozzi; Tania Rybkine; Elizabeth C Schramm; Anuja Java; John P Atkinson; Jean Claude Aldigier; Frank Bridoux; Guy Touchard; Veronique Fremeaux-Bacchi
Journal:  J Am Soc Nephrol       Date:  2015-10-15       Impact factor: 10.121

3.  Disturbed sialic acid recognition on endothelial cells and platelets in complement attack causes atypical hemolytic uremic syndrome.

Authors:  Satu Hyvärinen; Seppo Meri; T Sakari Jokiranta
Journal:  Blood       Date:  2016-03-22       Impact factor: 22.113

Review 4.  Genomic medicine for kidney disease.

Authors:  Emily E Groopman; Hila Milo Rasouly; Ali G Gharavi
Journal:  Nat Rev Nephrol       Date:  2018-01-08       Impact factor: 28.314

Review 5.  Combined methylmalonic acidemia and homocystinuria, cblC type. II. Complications, pathophysiology, and outcomes.

Authors:  Nuria Carrillo-Carrasco; Charles P Venditti
Journal:  J Inherit Metab Dis       Date:  2011-07-12       Impact factor: 4.982

6.  Anti factor H autoantibodies block C-terminal recognition function of factor H in hemolytic uremic syndrome.

Authors:  Mihály Józsi; Stefanie Strobel; Hans-Martin Dahse; Wei-shih Liu; Peter F Hoyer; Martin Oppermann; Christine Skerka; Peter F Zipfel
Journal:  Blood       Date:  2007-05-10       Impact factor: 22.113

7.  Complement factor I: a susceptibility gene for atypical haemolytic uraemic syndrome.

Authors:  V Fremeaux-Bacchi; M-A Dragon-Durey; J Blouin; C Vigneau; D Kuypers; B Boudailliez; C Loirat; E Rondeau; W H Fridman
Journal:  J Med Genet       Date:  2004-06       Impact factor: 6.318

8.  The association between idiopathic hemolytic uremic syndrome and infection by verotoxin-producing Escherichia coli.

Authors:  M A Karmali; M Petric; C Lim; P C Fleming; G S Arbus; H Lior
Journal:  J Infect Dis       Date:  1985-05       Impact factor: 5.226

Review 9.  Multi-omics approaches to disease.

Authors:  Yehudit Hasin; Marcus Seldin; Aldons Lusis
Journal:  Genome Biol       Date:  2017-05-05       Impact factor: 13.583

Review 10.  Imaging the kidney: from light to super-resolution microscopy.

Authors:  Maria Lucia Angelotti; Giulia Antonelli; Carolina Conte; Paola Romagnani
Journal:  Nephrol Dial Transplant       Date:  2021-01-01       Impact factor: 5.992

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  3 in total

1.  Incidence and cost of haemolytic uraemic syndrome in urban China: a national population-based analysis.

Authors:  Jingnan Feng; Ke Xu; Jie Ding; Shengfeng Wang; Siyan Zhan; Xinmiao Shi; Lu Xu; Lili Liu; Fang Wang; Xuhui Zhong; Guozhen Liu; Jinxi Wang; Pei Gao
Journal:  BMC Nephrol       Date:  2022-03-30       Impact factor: 2.388

Review 2.  Nephritis-Associated Plasmin Receptor (NAPlr): An Essential Inducer of C3-Dominant Glomerular Injury and a Potential Key Diagnostic Biomarker of Infection-Related Glomerulonephritis (IRGN).

Authors:  Nobuyuki Yoshizawa; Muneharu Yamada; Masayuki Fujino; Takashi Oda
Journal:  Int J Mol Sci       Date:  2022-09-01       Impact factor: 6.208

3.  Hemolytic Uremic Syndrome in Children.

Authors:  Bora Gülhan; Fatih Özaltın
Journal:  Turk Arch Pediatr       Date:  2021-09
  3 in total

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