Pathogenic Variants in Complement Genes and Risk of Atypical Hemolytic Uremic Syndrome Relapse after Eculizumab Discontinuation

Fakhouri, Fádi; Fila, Marc; François, Patrice; Delmas, Yahsou; Barbet, Christelle; Châtelet, Valérie; Rafat, Cédric; Cailliez, Mathilde; Hogan, Julien; Servais, Aude; Karras, Alexandre; Makdassi, R; Louillet, Feriell; Coindre, Jean‐Philippe; Rondeau, Éric; Loirat, Chantal; Frémeaux‐Bacchi, Véronique

doi:10.2215/cjn.06440616

Cited by 166 publications

(151 citation statements)

References 24 publications

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“…Withdrawal of eculizumab has been described in a large series of patients with aHUS, with relapse reported in around one third, exclusively in those with complement mutations (34). That rapid reintroduction of eculizumab returned kidney function to baseline suggests that a disease-driven intermittent regime could replace longterm therapy, although prospective trials are required.…”

Section: Complement-inhibiting Therapymentioning

confidence: 99%

Thrombotic Microangiopathy and the Kidney

Brocklebank

Wood

Kavanagh

2017

CJASN

291

288

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Thrombotic microangiopathy can manifest in a diverse range of diseases and is characterized by thrombocytopenia, microangiopathic hemolytic anemia, and organ injury, including AKI. It can be associated with significant morbidity and mortality, but a systematic approach to investigation and prompt initiation of supportive management and, in some cases, effective specific treatment can result in good outcomes. This review considers the classification, pathology, epidemiology, characteristics, and pathogenesis of the thrombotic microangiopathies, and outlines a pragmatic approach to diagnosis and management.

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Section: Complement-inhibiting Therapymentioning

confidence: 99%

Thrombotic Microangiopathy and the Kidney

Brocklebank

Wood

Kavanagh

2017

CJASN

291

288

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“…16 Patients were included if they fulfilled aHUS criteria, had negative testing for Shiga toxin when applicable, had ADAMTS13 levels above 10%, and received eculizumab at the discretion of the treating physicians. We report dialysis independence at last follow-up, TMA-event-free status as in Legendre et al, 5 and relapse as in Fakhouri et al 10 Detailed methods are reported in the supplemental Appendix, available on the Blood website.…”

mentioning

confidence: 99%

Eculizumab cessation in atypical hemolytic uremic syndrome

Merrill¹,

Brittingham²,

Yuan³

et al. 2017

Blood

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“…On the other hand, patients with MCP mutation, CFI mutation, or no mutation showed no recurrence. Although more studies are needed to confirm these observations, lifelong treatment may not be needed for all patients with aHUS, and clarifying the genetic background may help to discontinue the anti-complement drug [67].…”

Section: Eculizumabmentioning

confidence: 99%

Atypical hemolytic uremic syndrome

2017

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Atypical hemolytic uremic syndrome (aHUS) is a thrombotic microangiopathy (TMA) characterized by microangiopathic hemolytic anemia, thrombocytopenia, and acute renal failure. Most cases of aHUS are caused by uncontrolled complement activation due to genetic mutations in the alternative pathway of complement. More recently, mutations in the gene of coagulation system have also been identified in patients with aHUS. In Japan, the recent studies of aHUS have identified the unique genetic characteristics in our country and enabled us to revise the diagnostic criteria. In this article, we review the classification of TMAs and describe the pathophysiology, diagnosis, and management of aHUS. We also highlight current progress in clinical and basic research of the patients with aHUS in Japan.

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Pathogenic Variants in Complement Genes and Risk of Atypical Hemolytic Uremic Syndrome Relapse after Eculizumab Discontinuation

Cited by 166 publications

References 24 publications

Thrombotic Microangiopathy and the Kidney

Thrombotic Microangiopathy and the Kidney

Eculizumab cessation in atypical hemolytic uremic syndrome

Atypical hemolytic uremic syndrome

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