Factor H deficiency

Common Name(s)

Factor H deficiency

Complement factor H deficiency (CFHD) can manifest as several different phenotypes, including asymptomatic, recurrent bacterial infections, and renal failure. Laboratory features usually include decreased serum levels of factor H, complement component C3 ({120700}), and a decrease in other alternative pathway components, indicating activation of the alternative complement pathway. Homozygotes and heterozygotes may show increased susceptibility to meningococcal infections. In addition, a number of renal diseases have been associated with factor H defect or deficiency, including atypical hemolytic-uremic syndrome (aHUS; {235400}), membranoproliferative glomerulonephritis type II (MPGN II), and nonspecific hematuria or nephritis ({3:Ault, 2000}). See also complement factor I deficiency ({610984}), which shows phenotypic overlap with this disorder. {19:Welch (2002)} discussed the role of complement in renal disease. Membranoproliferative Glomerulonephritis type II {1:Abrera-Abeleda et al. (2006)} summarized features of MPGN relevant to the complement cascade. MPGN type II, also known as dense deposit disease, causes chronic renal dysfunction that progresses to end-stage renal disease in about half of patients within 10 years of diagnosis. MPGN types I and III are variants of immune complex-mediated disease; MPGN II, in contrast, has no known association with immune complexes ({2:Appel et al., 2005}). MPGN II accounts for less than 20% of cases of MPGN in children and only a fractional percentage of cases in adults. Both sexes are affected equally, with the diagnosis usually made in children between the ages of 5 and 15 years who present with nonspecific findings such as hematuria, proteinuria, acute nephritic syndrome, or nephrotic syndrome. More than 80% of patients with MPGN II are positive for serum C3 nephritic factor (C3NeF), an autoantibody directed against C3bBb, the convertase of the alternative pathway of the complement cascade. C3NeF prolongs the half-life of C3 convertase. Patients with MPGN type II without C3NeF often have mutations in the CFH gene, which also results in prolonged activation of C3 convertase.
 

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Factor H deficiency" returned 17 free, full-text research articles on human participants. First 3 results:

Complement factor H-related protein 1 deficiency and factor H antibodies in pediatric patients with atypical hemolytic uremic syndrome.
 

Author(s): Johannes Hofer, Andreas R Janecke, L B Zimmerhackl, Magdalena Riedl, Alejandra Rosales, Thomas Giner, Gerard Cortina, Carola J Haindl, Barbara Petzelberger, Miriam Pawlik, Verena Jeller, Udo Vester, Bettina Gadner, Michael van Husen, Michael L Moritz, Reinhard W├╝rzner, Therese Jungraithmayr,

Journal: Clin J Am Soc Nephrol. 2013 Mar;8(3):407-15.

 

This study evaluated the relevance of complement factor H (CFH)-related protein (CFHR) 1 deficiency in pediatric patients with atypical hemolytic uremic syndrome (aHUS) by evaluating both the frequency of deletions in CFHR1 and the presence of complement factor H (CFH) antibodies.

Last Updated: 8 Mar 2013

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Combination of factor H mutation and properdin deficiency causes severe C3 glomerulonephritis.
 

Author(s): Allison M Lesher, Lin Zhou, Yuko Kimura, Sayaka Sato, Damodar Gullipalli, Andrew P Herbert, Paul N Barlow, Hannes U Eberhardt, Christina Skerka, Peter F Zipfel, Takayuki Hamano, Takashi Miwa, Kenneth S Tung, Wen-Chao Song

Journal: J. Am. Soc. Nephrol.. 2013 Jan;24(1):53-65.

 

Factor H (fH) and properdin both modulate complement; however, fH inhibits activation, and properdin promotes activation of the alternative pathway of complement. Mutations in fH associate with several human kidney diseases, but whether inhibiting properdin would be beneficial in ...

Last Updated: 31 Dec 2012

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Loss of properdin exacerbates C3 glomerulopathy resulting from factor H deficiency.
 

Author(s): Marieta M Ruseva, Katherine A Vernon, Allison M Lesher, Wilhelm J Schwaeble, Youssif M Ali, Marina Botto, Terence Cook, Wenchao Song, Cordula M Stover, Matthew Caleb Pickering

Journal: J. Am. Soc. Nephrol.. 2013 Jan;24(1):43-52.

 

Complement factor H (CFH) is a negative regulator of the alternative pathway of complement, and properdin is the sole positive regulator. CFH-deficient mice (CFH(-/-)) develop uncontrolled C3 activation and spontaneous renal disease characterized by accumulation of C3 along the glomerular ...

Last Updated: 31 Dec 2012

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Factor H deficiency" returned 1 free, full-text review articles on human participants. First 3 results:

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.
 

Author(s): Peter F Zipfel, Richard J H Smith, Christine Skerka

Journal: Nephrol. Dial. Transplant.. 2009 Feb;24(2):385-7.

 

Last Updated: 15 Jan 2009

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