C3 Glomerulonephritis With Multiple Mutations in Complement Factor H

Authors

  • Nooshin Dalili Chronic Kidney Disease Research Center, Department of Nephrology, Labbafinejad Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran Author
  • Babak Behnam Department of Medical Genetics and Molecular Biology, Faculty of Medicine, Iran University of Medical Sciences, Tehran, Iran Author
  • Farzaneh Vali Department of Medical Genetics and Molecular Biology, Faculty of Medicine, Iran University of Medical Sciences, Tehran, Iran Author
  • Mahmoud Parvin Department of Pathology, Labbafinejad Hospital, Shahid Beheshti Medical University, Tehran, Iran Author
  • Peyman Torbati Department of Pathology, Labbafinejad Hospital, Shahid Beheshti Medical University, Tehran, Iran Author
  • Nakisa Rasaii Chronic Kidney Disease Research Center, Department of Nephrology, Labbafinejad Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran Author
  • Fariba Samadian Chronic Kidney Disease Research Center, Department of Nephrology, Labbafinejad Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran Author
  • Pedram Ahmadpoor Chronic Kidney Disease Research Center, Department of Nephrology, Labbafinejad Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran Author

Abstract

Complement C3 glomerulopathy refers to a disease process in which abnormal control of complement activation or degradation results in predominant C3 fragment deposition within the glomerulus and causes glomerular damage. Abnormal control of the complement alternative pathway is a well-established risk factor for the occurrence of C3 glomerulonephritis. It is the first reported case in Iran with multiple mutations in complement factor H, with one of these mutations we have expected in hemolytic uremic syndrome rather than C3 glomerulopathy Genetic analysis showed that the molecular abnormalities of factor H led to complement factor H malfunction that were polymorphous and not restricted to the C-terminal domains of the protein.

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Author Biographies

  • Nooshin Dalili, Chronic Kidney Disease Research Center, Department of Nephrology, Labbafinejad Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran
    assisstant proffessor of nephrology , masih daneshvari hospital, SBMU
  • Babak Behnam, Department of Medical Genetics and Molecular Biology, Faculty of Medicine, Iran University of Medical Sciences, Tehran, Iran

    Present address: NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, Maryland, USA Office of the Clinical Director, NHGRI, National Institutes of Health, Bethesda, Maryland, USA

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Published

2018-10-15

Issue

Section

CASE REPORT | Kidney Diseases

How to Cite

C3 Glomerulonephritis With Multiple Mutations in Complement Factor H. (2018). Iranian Journal of Kidney Diseases, 12(6), 376-381. https://www.ijkd.org/index.php/ijkd/article/view/3162

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