<abstract xmlns="http://www.w3.org/1999/xhtml">

<bold>Introduction</bold>: Atypical hemolytic uremic syndrome (aHUS) is a rare form of thrombotic microangiopathy, caused by dysregulation of the complement alternative pathway. Deletion of the complement factor H–related genes, CFHR1 and CFHR3, together with the presence of CFH autoantibodies are reported in aHUS patients, representing 10% of cases of patients with aHUS.
<bold>Case presentation</bold>: We report here on a case of 4-year-old girl with anti-CFH antibody-associated aHUS. The measurement of complement factors and anti-factor H antibodies, was the main guideline for making an accurate diagnosis and providing the appropriate therapy, with the patient responding positively to plasma exchanges (PEs) and cyclophosphamide pulses. We then, one year after disease onset, continued with glucocorticoids and mycophenolate mofetil (MMF), as maintenance therapy. There were no complications during the therapy other than neutropenia. Now, one year after the cessation of the immune suppression therapy, she is in remission with normal kidney function, no signs of hemolysis, normal C3 levels, and normal range proteinuria. The anti-factor H autoantibody titer decreased but still remained positive, the factor H antigen values remained low all throughout. Close follow-up is applied with frequent urine testing and complete blood count with an intention for early detection of relapse of the disease.
<bold>Conclusion</bold>: The purpose of this case report is to emphasize the value of complement factor measurements and also to separate anti-CFH antibody-associated aHUS as an entity, because immunosuppressive therapy provides an excellent response..
</abstract>

Introduction: Atypical hemolytic uremic syndrome (aHUS) is a rare form of thrombotic microangiopathy, caused by dysregulation of the complement alternative pathway. Deletion of the complement factor H–related genes, CFHR1 and CFHR3, together with the presence of CFH autoantibodies are reported in aHUS patients, representing 10% of cases of patients with aHUS.
Case presentation: We report here on a case of 4-year-old girl with anti-CFH antibody-associated aHUS. The measurement of complement factors and anti-factor H antibodies, was the main guideline for making an accurate diagnosis and providing the appropriate therapy, with the patient responding positively to plasma exchanges (PEs) and cyclophosphamide pulses. We then, one year after disease onset, continued with glucocorticoids and mycophenolate mofetil (MMF), as maintenance therapy. There were no complications during the therapy other than neutropenia. Now, one year after the cessation of the immune suppression therapy, she is in remission with normal kidney function, no signs of hemolysis, normal C3 levels, and normal range proteinuria. The anti-factor H autoantibody titer decreased but still remained positive, the factor H antigen values remained low all throughout. Close follow-up is applied with frequent urine testing and complete blood count with an intention for early detection of relapse of the disease.
Conclusion: The purpose of this case report is to emphasize the value of complement factor measurements and also to separate anti-CFH antibody-associated aHUS as an entity, because immunosuppressive therapy provides an excellent response..

Anti-Factor H Antibody-Associated Atypical Hemolytic Uremic Syndrome: A Case Report

University Clinic for Children’s Disease

Department of Nephrology, Medical Faculty

University of Belgrade, Faculty of Medicine

PRILOZI

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

Introduction: Atypical hemolytic uremic syndrome (aHUS) is a rare form of thrombotic microangiopathy, caused by dysregulation of the complement alternative...

Anti-Factor H Antibody-Associated Atypical Hemolytic Uremic Syndrome: A Case Report

Data publikacji: 26 paź 2021

Zakres stron: 109 - 115

DOI: https://doi.org/10.2478/prilozi-2021-0029

Słowa kluczowe
atypical hemolytic uremic syndrome, complement factor H autoantibodies, plasma exchanges, cyclophosphamide, mycophenolate mofetil

© 2021 Nora Abazi-Emini et al., published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

Anti-Factor H Antibody-Associated Atypical Hemolytic Uremic Syndrome: A Case Report

Data publikacji: 26 paź 2021

Zakres stron: 109 - 115

DOI: https://doi.org/10.2478/prilozi-2021-0029

Słowa kluczoweatypical hemolytic uremic syndrome, complement factor H autoantibodies, plasma exchanges, cyclophosphamide, mycophenolate mofetil

© 2021 Nora Abazi-Emini et al., published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

Słowa kluczowe
atypical hemolytic uremic syndrome, complement factor H autoantibodies, plasma exchanges, cyclophosphamide, mycophenolate mofetil