Plasma resistant atypical hemolytic uremic syndrome associated with a CFH mutation treated with eculizumab: a case report

Journal of Medical Case Reports

Abdulkadir Unsal¹  David Kavanagh²  Tim HJ Goodship²  Vicky Brocklebank²  Ekrem Kara¹  Cuneyt Akgol¹  Elbis Ahbap¹  Yener Koc¹  Tamer Sakaci¹  Tuncay Sahutoglu¹  Taner Basturk¹  Mustafa Sevinc¹ 

[1] Department of Nephrology, Sisli Hamidiye Etfal Training and Education Hospital, Halaskargazi Cad. Etfal Sok, Şişli, 34371, Istanbul, Turkey;Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK

关键词: Hemolytic uremic syndrome;    Complement;    Factor H;    Eculizumab;   

Others  :  1204625
DOI  :  10.1186/s13256-015-0575-y

 received in 2014-12-16, accepted in 2015-03-18,  发布年份 2015

【 摘 要 】

Introduction

Thrombotic microangiopathies are a group of diseases presenting as microangiopathic hemolytic anemia, thrombocytopenia and end-organ dysfunction. As the role of the complement system was elucidated in atypical hemolytic uremic syndrome pathogenesis, eculizumab was successfully introduced into clinical practice. We present a large pedigree with multiple individuals carrying a functionally significant novel factor H mutation. We describe the proband’s presentation following a presumed infectious trigger requiring plasma exchange and hemodialysis.

Case presentation

A 32-year-old Caucasian woman presented with pyrexia and headache lasting one week to our Emergency Department. She gave no history of diarrhea or other symptoms to account for her high temperature. She was not taking any medication. She was pyrexial (38°C), tachycardic (110bpm) and hypertensive (160/110mmHg). Her fundoscopy revealed grade IV hypertensive retinopathy. She had mild pretibial and periorbital edema, with oliguria (450mL/day). She had a pregnancy one year previously, during which she had hypertension, proteinuria and edema, with successful delivery at term. Her mother had died in her early 30s with a clinical picture consistent with thrombotic microangiopathy. Her laboratory evaluation showed microangiopathic hemolytic anemia. After 22 sessions of plasma exchange, her lactate dehydrogenase levels started to climb. As a result, she was classified as plasma resistant and eculizumab therapy was instituted. Her lactate dehydrogenase level and platelet count normalized, and her renal function recovered after three months of dialysis.

Conclusions

We demonstrate that, even in patients with atypical hemolytic uremic syndrome and prolonged dialysis dependence, recovery of renal function can be seen with eculizumab treatment. We suggest a treatment regime of at least three months prior to evaluation of efficacy.

【 授权许可】

   
2015 Sevinc et al.; licensee BioMed Central.

【 图 表 】

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Figure 2.

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