BACKGROUND: Atypical haemolytic uraemic syndrome (aHUS) is a rare disorder usually caused by dysregulation of the alternative complement pathway. Uncontrolled complement activation results in systemic complement-mediated thrombotic microangiopathy (TMA) and subsequent multi-organ damage. The two most common extrarenal complications comprise neurological and cardiovascular involvement. Eculizumab, a humanised anti-C5 monoclonal antibody, has recently been introduced as a therapy for this condition. CASE-DIAGNOSIS/TREATMENT: A 19-month-old child suffering from aHUS with severe neurological involvement, dilated cardiomyopathy and renal impairment requiring dialysis received eculizumab as first-line treatment, initiated within 12 h of admission, resulting in significant improvements in her neurological state and normalisation of cardiac and renal function. These positive outcomes have been sustained with fortnightly eculizumab therapy (at the time of writing, on-going for 1 year). No further complications of TMA have occurred. CONCLUSION: Severe cardiac involvement in a child with aHUS is an important indication for prompt, first-line treatment with eculizumab, resulting in rapid normalisation of cardiac function.
BACKGROUND: Atypical haemolytic uraemic syndrome (aHUS) is a rare disorder usually caused by dysregulation of the alternative complement pathway. Uncontrolled complement activation results in systemic complement-mediated thrombotic microangiopathy (TMA) and subsequent multi-organ damage. The two most common extrarenal complications comprise neurological and cardiovascular involvement. Eculizumab, a humanised anti-C5 monoclonal antibody, has recently been introduced as a therapy for this condition. CASE-DIAGNOSIS/TREATMENT: A 19-month-old child suffering from aHUS with severe neurological involvement, dilated cardiomyopathy and renal impairment requiring dialysis received eculizumab as first-line treatment, initiated within 12 h of admission, resulting in significant improvements in her neurological state and normalisation of cardiac and renal function. These positive outcomes have been sustained with fortnightly eculizumab therapy (at the time of writing, on-going for 1 year). No further complications of TMA have occurred. CONCLUSION: Severe cardiac involvement in a child with aHUS is an important indication for prompt, first-line treatment with eculizumab, resulting in rapid normalisation of cardiac function.
Authors: Anne-Laure Lapeyraque; Michal Malina; Véronique Fremeaux-Bacchi; Tobias Boppel; Michael Kirschfink; Mehdi Oualha; François Proulx; Marie-José Clermont; Françoise Le Deist; Patrick Niaudet; Franz Schaefer Journal: N Engl J Med Date: 2011-05-25 Impact factor: 91.245
Authors: C M Legendre; C Licht; P Muus; L A Greenbaum; S Babu; C Bedrosian; C Bingham; D J Cohen; Y Delmas; K Douglas; F Eitner; T Feldkamp; D Fouque; R R Furman; O Gaber; M Herthelius; M Hourmant; D Karpman; Y Lebranchu; C Mariat; J Menne; B Moulin; J Nürnberger; M Ogawa; G Remuzzi; T Richard; R Sberro-Soussan; B Severino; N S Sheerin; A Trivelli; L B Zimmerhackl; T Goodship; C Loirat Journal: N Engl J Med Date: 2013-06-06 Impact factor: 91.245
Authors: Mathieu Lemaire; Véronique Frémeaux-Bacchi; Franz Schaefer; Murim Choi; Wai Ho Tang; Moglie Le Quintrec; Fadi Fakhouri; Sophie Taque; François Nobili; Frank Martinez; Weizhen Ji; John D Overton; Shrikant M Mane; Gudrun Nürnberg; Janine Altmüller; Holger Thiele; Denis Morin; Georges Deschenes; Véronique Baudouin; Brigitte Llanas; Laure Collard; Mohammed A Majid; Eva Simkova; Peter Nürnberg; Nathalie Rioux-Leclerc; Gilbert W Moeckel; Marie Claire Gubler; John Hwa; Chantal Loirat; Richard P Lifton Journal: Nat Genet Date: 2013-03-31 Impact factor: 41.307
Authors: Rodney D Gilbert; Louise K Stanley; Darren J Fowler; Elizabeth M Angus; Steven A Hardy; Timothy H Goodship Journal: Clin Kidney J Date: 2013-08
Authors: Chantal Loirat; Fadi Fakhouri; Gema Ariceta; Nesrin Besbas; Martin Bitzan; Anna Bjerre; Rosanna Coppo; Francesco Emma; Sally Johnson; Diana Karpman; Daniel Landau; Craig B Langman; Anne-Laure Lapeyraque; Christoph Licht; Carla Nester; Carmine Pecoraro; Magdalena Riedl; Nicole C A J van de Kar; Johan Van de Walle; Marina Vivarelli; Véronique Frémeaux-Bacchi Journal: Pediatr Nephrol Date: 2015-04-11 Impact factor: 3.714