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Original ArticlesHereditary Disease
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Familial C3 Glomerulopathy Associated with CFHR5 Mutations: Clinical Characteristics of 91 Patients in 16 Pedigrees

Yiannis Athanasiou, Konstantinos Voskarides, Daniel P. Gale, Loukas Damianou, Charalambos Patsias, Michalis Zavros, Patrick H. Maxwell, H. Terence Cook, Panayiota Demosthenous, Andreas Hadjisavvas, Kyriacos Kyriacou, Ioanna Zouvani, Alkis Pierides and Constantinos Deltas
CJASN June 2011, 6 (6) 1436-1446; DOI: https://doi.org/10.2215/CJN.09541010
Yiannis Athanasiou
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Konstantinos Voskarides
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Daniel P. Gale
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Loukas Damianou
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Charalambos Patsias
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Michalis Zavros
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Patrick H. Maxwell
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H. Terence Cook
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Panayiota Demosthenous
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Andreas Hadjisavvas
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Kyriacos Kyriacou
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Ioanna Zouvani
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Alkis Pierides
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Constantinos Deltas
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Abstract

Background and objectives Complement factor H and related proteins (CFHR) are key regulators of the alternative complement pathway, where loss of function mutations lead to a glomerulopathy with isolated mesangial C3 deposits without immunoglobulins. Gale et al. (12) reported on 26 patients with the first familial, hematuric glomerulopathy caused by a founder mutation in the CFHR5 gene in patients of Cypriot descent living in the United Kingdom. CFHR5 nephropathy is clinically characterized by continuous microscopic hematuria whereas some patients present with additional episodes of synpharyngitic macrohematuria, associated with infection and pyrexia. A subgroup of patients, particularly men, develop additional proteinuria, hypertension, and chronic renal disease or ESRD.

Design, setting, participants, & measurements We herewith expand significantly on the study by Gale et al., reporting on histologic, molecular, and clinical findings in 91 patients from 16 families with the same founder mutation.

Results Eighty-two patients (90%) exhibited microscopic hematuria; 51 (62%), exhibited only microscopic hematuria, whereas the remaining 31 additionally had proteinuria (38%); 28 proteinuric patients developed chronic renal failure (CRF). Among carriers of CFHR5 mutation aged >50 years, 80% of the men and 21% of the women developed CRF; 18 developed ESRD (14 men [78%], 4 women [22%]).

Conclusions The diagnosis of CFHR5-related, isolated C3 glomerulopathy was established in 2009 using newly described mutation analysis after decades of follow-up with unclear diagnoses, occasionally confused with IgA nephropathy. This larger patient cohort establishes the clinical course, significant variable expressivity, and marked gender difference regarding the development of CRF and ESRD.

  • Received October 26, 2010.
  • Accepted February 10, 2011.
  • Copyright © 2011 by the American Society of Nephrology
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Clinical Journal of the American Society of Nephrology: 6 (6)
Clinical Journal of the American Society of Nephrology
Vol. 6, Issue 6
1 Jun 2011
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Familial C3 Glomerulopathy Associated with CFHR5 Mutations: Clinical Characteristics of 91 Patients in 16 Pedigrees
Yiannis Athanasiou, Konstantinos Voskarides, Daniel P. Gale, Loukas Damianou, Charalambos Patsias, Michalis Zavros, Patrick H. Maxwell, H. Terence Cook, Panayiota Demosthenous, Andreas Hadjisavvas, Kyriacos Kyriacou, Ioanna Zouvani, Alkis Pierides, Constantinos Deltas
CJASN Jun 2011, 6 (6) 1436-1446; DOI: 10.2215/CJN.09541010

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Familial C3 Glomerulopathy Associated with CFHR5 Mutations: Clinical Characteristics of 91 Patients in 16 Pedigrees
Yiannis Athanasiou, Konstantinos Voskarides, Daniel P. Gale, Loukas Damianou, Charalambos Patsias, Michalis Zavros, Patrick H. Maxwell, H. Terence Cook, Panayiota Demosthenous, Andreas Hadjisavvas, Kyriacos Kyriacou, Ioanna Zouvani, Alkis Pierides, Constantinos Deltas
CJASN Jun 2011, 6 (6) 1436-1446; DOI: 10.2215/CJN.09541010
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Cited By...

  • The solution structure of the complement deregulator FHR5 reveals a compact dimer and provides new insights into CFHR5 nephropathy
  • CFHR Gene Variations Provide Insights in the Pathogenesis of the Kidney Diseases Atypical Hemolytic Uremic Syndrome and C3 Glomerulopathy
  • Statistical Validation of Rare Complement Variants Provides Insights into the Molecular Basis of Atypical Hemolytic Uremic Syndrome and C3 Glomerulopathy
  • Mycophenolate Mofetil in Combination with Steroids for Treatment of C3 Glomerulopathy: A Case Series
  • Clusters Not Classifications: Making Sense of Complement-Mediated Kidney Injury
  • Partial Complement Factor H Deficiency Associates with C3 Glomerulopathy and Thrombotic Microangiopathy
  • Complement Factor H-Related 5-Hybrid Proteins Anchor Properdin and Activate Complement at Self-Surfaces
  • Efficacy of Targeted Complement Inhibition in Experimental C3 Glomerulopathy
  • Isolated microscopic haematuria of glomerular origin: clinical significance and diagnosis in the 21st century
  • Kidney Disease Caused by Dysregulation of the Complement Alternative Pathway: An Etiologic Approach
  • C4d Staining in the Diagnosis of C3 Glomerulopathy
  • Defining the Complement Biomarker Profile of C3 Glomerulopathy
  • Update on Membranoproliferative GN
  • Regulating complement in the kidney: insights from CFHR5 nephropathy
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