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Analyses of Proteinuria, Renal Infiltration of Leukocytes, and Renal Deposition of Proteins in Lupus-prone MRL/lpr Mice
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Inherited Kidney Complement Diseases

Mathieu Lemaire1,2,3, Damien Noone1,3, Anne-Laure Lapeyraque4,5

  • 1Division of Nephrology, The Hospital for Sick Children, Toronto, Ontario, Canada.

Clinical Journal of the American Society of Nephrology : CJASN
|February 4, 2021
PubMed

Insights

Recent advances significantly improve diagnosis and treatment for genetic kidney diseases linked to complement dysregulation, particularly atypical hemolytic uremic syndrome (aHUS) and C3 glomerulopathies.

Area of Science:

  • Nephrology
  • Genetics
  • Immunology

Background:

  • Genetic kidney diseases driven by complement dysregulation have seen major diagnostic and therapeutic progress.
  • Understanding the genetic basis and pathophysiology of atypical hemolytic uremic syndrome (aHUS) and C3-dominant glomerulopathies has advanced significantly.
  • Complement system abnormalities are key drivers of these kidney conditions.

Purpose of the Study:

  • To provide an overview of recent developments in diagnosing and treating complement-driven genetic kidney diseases.
  • To focus on single-gene (Mendelian) forms of aHUS and C3-dominant glomerulopathies.
  • To highlight key genes associated with these conditions and discuss future research directions.

Main Methods:

  • Review of recent scientific literature on genetic kidney diseases and complement dysregulation.
  • Focus on specific genes with robust associations to aHUS and C3-dominant glomerulopathies.
  • Synthesis of findings related to pathophysiology, diagnosis, and therapy.

Main Results:

  • Significant progress in understanding the genetic underpinnings of aHUS and C3-dominant glomerulopathies.
  • Development of innovative therapies that have improved patient outcomes.
  • Identification of key genes involved, including complement factor H, C3, and others.

Conclusions:

  • Recent advances have transformed the management of complement-mediated kidney diseases.
  • Targeted therapies based on genetic insights offer improved outcomes for aHUS and C3 glomerulopathies.
  • Continued research is crucial for addressing remaining challenges and exploring future therapeutic avenues.

Keywords:
complementgenetic renal diseaseglomerulopathyhemolytic uremic syndromehuman geneticsimmune complexesmembranoproliferative glomerulonephritis (MPGN)

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