Complement Factor H Deficiency

Deficiencies in CFH can result in different phenotypes. Affected individuals may be asymptomatic, or be susceptible to recurrent BACTERIAL INFECTIONS, and KIDNEY DISEASES including RENAL FAILURE. Laboratory results usually show decreased serum levels of factor H, COMPLEMENT C3, and a decrease in other ALTERNATIVE COMPLEMENT PATHWAY components and activation. Shows phenotypic overlap with complement factor I deficiency (OMIM: 610984). Both dominant and recessive inheritance has been reported for CFH deficiency. May be associated with mutations in the HF1 gene. OMIM: 609814

Also Known As:

Networked: 51 relevant articles (0 outcomes, 2 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Meningococcal Meningitis
2.	Cutaneous Lupus Erythematosus
3.	Atypical Hemolytic Uremic Syndrome
4.	Hemolytic-Uremic Syndrome
5.	Membranoproliferative Glomerulonephritis (Membranoproliferative Glomerulonephritis, Type II)

Experts

1.	Pickering, Matthew C: 6 articles (01/2021 - 10/2007)
2.	Frémeaux-Bacchi, Véronique: 6 articles (12/2016 - 11/2006)
3.	Cook, H Terence: 4 articles (01/2021 - 02/2008)
4.	Deschênes, Georges: 3 articles (12/2016 - 11/2006)
5.	Ulinski, Tim: 3 articles (12/2016 - 11/2006)
6.	Zipfel, Peter F: 3 articles (02/2009 - 02/2005)
7.	Cheong, Hae Il: 2 articles (01/2018 - 04/2004)
8.	Ha, Il Soo: 2 articles (01/2018 - 04/2004)
9.	Bensman, Albert: 2 articles (12/2016 - 11/2007)
10.	Goodship, Timothy H J: 2 articles (11/2013 - 08/2008)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Complement Factor H Deficiency:

1.	Tyrosine (L-Tyrosine)FDA Link 04/23/1999 - "Previous studies of inherited factor H deficiency revealed single amino acid substitutions at conserved cysteine residues, on one allele arginine for cysteine 518 (C518R) and on the other tyrosine for cysteine 941 (C941Y) (Ault, B. "
2.	Proteins (Proteins, Gene)FDA Link 09/01/1996 - "The proband of the family in this study suffered from subacute cutaneous lupus erythematosus and had had meningococcal meningitis due to serogroup X. She had a complete factor H deficiency at the protein level as determined by Western blotting. "
3.	Cysteine (L-Cysteine)FDA Link 04/23/1999 - "Previous studies of inherited factor H deficiency revealed single amino acid substitutions at conserved cysteine residues, on one allele arginine for cysteine 518 (C518R) and on the other tyrosine for cysteine 941 (C941Y) (Ault, B. "
4.	Arginine (L-Arginine)FDA Link 04/23/1999 - "Previous studies of inherited factor H deficiency revealed single amino acid substitutions at conserved cysteine residues, on one allele arginine for cysteine 518 (C518R) and on the other tyrosine for cysteine 941 (C941Y) (Ault, B. "
5.	Complement Factor H (Factor H)IBA 06/01/2018 - "Mutations in complement factor H associated with factor H deficiency were identified, which are associated with increased risk of aHUS. " 11/01/2013 - "Mutations of factor H in C3GN have been described; however, complete CFH deficiency is rare in these patients. " 11/01/2013 - "Investigation showed him to have complement factor H (CFH) deficiency associated with a homozygous CFH mutation (c.2880delT [p.Phe960fs]). " 09/01/2011 - "Complete factor H deficiency (CFH) was due to homozygous complement factor H mutations in short consesus repeat (SCR) 7, 10, and 11. " 11/01/2006 - "We suggest that protracted administration of exogenous factor H might not be a long-term strategy in homozygous factor H deficiency."
6.	Complement System Proteins (Complement)IBA 11/01/2013 - "Detailed complement analysis revealed complete factor H deficiency due to a homozygous CFH mutation. " 05/01/2008 - "As a whole, these data recapitulate a prototypical complement genetic profile, including a partial factor H deficiency and the presence of major risk factors for AMD and MPGN2, which support the hypothesis that these dense deposit diseases have a common pathogenic mechanism involving dysregulation of the alternative pathway of complement activation." 02/01/1995 - "Measurement of complement components revealed complete factor H deficiency, inherited as an autosomal recessive trait. " 06/01/2014 - "Complement overactivity induced by complement factor H deficiency is associated with atypical hemolytic uremic syndrome. " 11/01/2007 - "Factor H deficiency is responsible for thrombotic microangiopathy (TMA) via uncontrolled activation of the alternative pathway of the complement system. "
7.	Fibrinogen (Factor I)FDA Link 01/01/2011 - "In particular, MPGN associated with factor H deficiency is absolutely dependent on both the ability to activate C3 and on the ability of factor I to cleave C3b. " 02/01/2009 - "Factor I and factor H deficiency in renal diseases: similar defects in the fluid phase have a different outcome at the surface of the glomerular basement membrane." 02/01/2008 - "Together, these findings provide what we believe to be the first evidence that factor I-mediated generation of activated C3 fragments in the circulation is a critical determinant for the development of MPGN2 associated with factor H deficiency."
8.	eculizumabFDA Link 12/01/2014 - "Eculizumab in neonatal hemolytic uremic syndrome with homozygous factor H deficiency." 12/01/2016 - "In the case of human complement factor H (CFH) deficiency, the choice is either kidney transplantation in combination with eculizumab, a humanized anti-C5 monoclonal antibody, or a combined liver-kidney transplantation. " 02/01/2012 - "Eculizumab, a monoclonal antibody targeting complement C5 and blocking the terminal complement cascade, should theoretically be useful in this disease, particularly when associated with specific complement pathway anomalies such as Factor H deficiency. "
9.	thiamine triphosphorate (TTP)IBA 10/01/2005 - "TTP may be clinically undistinguishable from the atypical haemolytic uremic syndrome associated with complement factor H deficiency. " 10/01/2014 - "These conditions might cause acquired TTP, HUS, or other TMAs, or might be a trigger in individuals with genetic predisposition to ADAMTS-13 or complement factor H deficiency. " 02/01/2007 - "Verotoxin-induced hemolytic uremic syndrome (HUS), Streptococcus-pneumoniae-related HUS, factor H deficiency, drug-induced thrombotic thrombocytopenic purpura (TTP), and ADAMTS13 (von Willebrand factor-cleaving protease; a disintegrin-like and metalloprotease with thrombospondin type 1 repeats)-related TTP were excluded. "
10.	Retinaldehyde (Retinal)IBA 10/16/2007 - "Complement factor H deficiency in aged mice causes retinal abnormalities and visual dysfunction." 01/01/2012 - "The data presented in this report provides evidence that up-regulation of brain- and retinal- abundant miRNAs, including miRNA-9, miRNA-125b, miRNA-146a and miRNA-155, are common to the pathogenetic mechanism of CFH deficiency that drives inflammatory neurodegeneration, and for the first time indicates multiple, independent miRNA-mediated regulation of the CFH mRNA 3'-UTR."

Therapies and Procedures

1.	Therapeutics 08/01/2010 - "Hence, we suggest that hCFH can be an effective alternative therapy to plasma infusions in patients with renal disease associated with CFH deficiency." 08/01/2008 - "Reported secondary failure of plasma therapy in factor H deficiency warrants the search for alternative therapeutic approaches." 11/01/2006 - "Secondary failure of plasma therapy in factor H deficiency." 07/01/2001 - "Successful plasma therapy in hemolytic uremic syndrome with factor H deficiency." 02/01/2005 - "Successful plasma therapy for atypical hemolytic uremic syndrome caused by factor H deficiency owing to a novel mutation in the complement cofactor protein domain 15."
2.	Kidney Transplantation 12/01/2016 - "A child with a homozygous CFH deficiency underwent a successful liver-kidney transplantation. " 12/01/2016 - "Long-term successful liver-kidney transplantation in a child with atypical hemolytic uremic syndrome caused by homozygous factor H deficiency." 01/01/2018 - "Kidney Transplantation in Patients with Atypical Hemolytic Uremic Syndrome due to Complement Factor H Deficiency: Impact of Liver Transplantation." 02/01/2012 - "Here, we present a patient with severe aHUS with complement factor H deficiency triggered by cocaine use and recurrence after kidney transplantation. " 04/01/2008 - "We report the first cases of atypical hemolytic and uremic syndrome associated with complement factor H (CFH) deficiency in native kidneys and glomerulonephritis with isolated C3 deposits after kidney transplantation. "
3.	Liver Transplantation 06/01/2014 - "We experienced a living donor liver transplantation for a 26-month-old girl with complement factor H deficiency. " 04/01/2004 - "Attempted treatment of factor H deficiency by liver transplantation." 01/01/2018 - "Kidney Transplantation in Patients with Atypical Hemolytic Uremic Syndrome due to Complement Factor H Deficiency: Impact of Liver Transplantation." 06/01/2014 - "Anesthetic management of living donor liver transplantation for complement factor H deficiency hemolytic uremic syndrome: a case report."
4.	Hemodiafiltration 12/01/2014 - "We report on an 11-day-old neonate with severe aHUS (myocardial impairment, respiratory failure, acute kidney disease requiring hemodiafiltration) due to homozygous factor-H deficiency. "
5.	Plasma Exchange 11/01/2007 - "We suspected that TMA due to factor H deficiency was responsible for the ocular manifestations and immediately initiated daily plasma exchanges (PEs) with fresh frozen plasma (FFP) for 10 days followed by three sessions per week. "