
PMID- 20301598
STAT- Publisher
DRDT- 20180405
CTDT- 20070720
PB  - University of Washington, Seattle
DP  - 1993
TI  - C3 Glomerulopathy.
BTI - GeneReviews((R))
AB  - CLINICAL CHARACTERISTICS: C3 glomerulopathy (C3G) is a complex ultra-rare 
      complement-mediated renal disease caused by uncontrolled activation of the 
      complement alternative pathway (AP) in the fluid phase (as opposed to cell 
      surface) that is rarely inherited in a simple mendelian fashion. C3G affects 
      individuals of all ages, with a median age at diagnosis of 23 years. Individuals 
      with C3G typically present with hematuria, proteinuria, hematuria and 
      proteinuria, acute nephritic syndrome or nephrotic syndrome, and low levels of 
      the complement component C3. Spontaneous remission of C3G is uncommon, and about 
      half of affected individuals develop end-stage renal disease (ESRD) within ten 
      years of diagnosis, occasionally developing the late comorbidity of impaired 
      visual acuity. DIAGNOSIS/TESTING: The definitive diagnosis of C3G requires a 
      renal biopsy with specialized immunofluorescence and electron microscopy studies 
      both for diagnosis and to distinguish between the two major subtypes of C3G: C3 
      glomerulonephritis (C3GN) and dense deposit disease (DDD). Some individuals will 
      have biallelic or heterozygous pathogenic variants identified by molecular 
      genetic testing in one or more of the genes that have been implicated in the 
      pathogenesis of C3G (i.e., C3, CD46, CFB, CFH, CFHR1, CFHR5, CFI, and DGKE). 
      MANAGEMENT: Treatment of manifestations: Nonspecific therapies used to treat 
      numerous chronic glomerular diseases, including angiotensin-converting enzyme 
      inhibitors, angiotensin II type-1 receptor blockers, and lipid-lowering agents 
      (in particular hydroxymethylglutaryl coenzyme A reductase inhibitors). Complement 
      inhibition with a terminal pathway blocker may alter disease course in some 
      individuals. When ESRD develops, treatment options are limited to dialysis or 
      transplantation. C3G recurs in nearly all grafts and is the predominant cause of 
      graft failure in 50%-90% of transplant recipients. Prevention of primary 
      manifestations: Plasma replacement therapy in individuals with pathogenic 
      variants in CFH may be effective in controlling complement activation and slowing 
      progression of ESRD. Surveillance: Close monitoring of renal function by a 
      nephrologist with familiarity with the C3G disease spectrum, complete biannual 
      assessment of the complement pathway, periodic eye examinations to evaluate the 
      fundus. Evaluation of relatives at risk: If the family history is positive for 
      renal disease, evaluation of apparently asymptomatic at-risk relatives can 
      include molecular genetic testing (if the pathogenic variants in the family are 
      known), urinalysis, and comprehensive analysis of the complement system. GENETIC 
      COUNSELING: C3G is a complex genetic disorder that is rarely inherited in a 
      simple mendelian fashion. Multiple affected persons within a single nuclear 
      family are reported only occasionally, with both dominant and recessive 
      inheritance being described.
CI  - Copyright (c) 1993-2026, University of Washington, Seattle. GeneReviews is a 
      registered trademark of the University of Washington, Seattle. All rights 
      reserved. Test.
FED - Adam, Margaret P
ED  - Adam MP
FED - Bick, Sarah
ED  - Bick S
FED - Mirzaa, Ghayda M
ED  - Mirzaa GM
FED - Pagon, Roberta A
ED  - Pagon RA
FED - Wallace, Stephanie E
ED  - Wallace SE
FED - Amemiya, Anne
ED  - Amemiya A
FAU - Martin, Bertha
AU  - Martin B
AD  - Molecular Otolaryngology and Renal Research Laboratories Anatomy and Cell Biology 
      Department University of Iowa Iowa City, Iowa
FAU - Smith, Richard JH
AU  - Smith RJH
AD  - Professor of Internal Medicine, Division of Nephrology Sterba Hearing Research 
      Professor of Otolaryngology Director, Molecular Otolaryngology and Renal Research 
      Laboratories University of Iowa Iowa City, Iowa
LA  - eng
PT  - Review
PT  - Book Chapter
PL  - Seattle (WA)
OTO - NLM
OT  - Glomerulonephritis with Dominant C3
OT  - C3G
OT  - Complement C3
OT  - Complement factor B
OT  - Complement factor H
OT  - Complement factor H-related protein 1
OT  - Complement factor H-related protein 5
OT  - Complement factor I
OT  - Diacylglycerol kinase epsilon
OT  - Membrane cofactor protein
OT  - C3
OT  - CD46
OT  - CFB
OT  - CFH
OT  - CFHR1
OT  - CFHR5
OT  - CFI
OT  - DGKE
OT  - C3 Glomerulopathy
OT  - C3G
OT  - Glomerulonephritis with Dominant C3
EDAT- 2018/04/05 00:00
CRDT- 2018/04/05 00:00
AID - NBK1425 [bookaccession]
