title: Recovery of renal function after long-term dialysis and resolution of cardiomyopathy in a patient with aHUS receiving eculizumab.
abstract: We present the case of a 18-month-old girl with renal and cardiac manifestations of atypical haemolytic uraemic syndrome (aHUS), and a novel complement factor H mutation. Transient haematological remission was achieved with intensive plasmapheresis, but cardiac function deteriorated and renal function was not restored. Initiation of eculizumab after 6 months of dialysis significantly improved organ function. At 43 months after presentation, haematological values had normalised and cardiac function had improved. Dialysis was discontinued after 10 months (the longest reported time in a patient with aHUS) and the estimated glomerular filtration rate had recovered to 70 mL/min/1.73 m(2). In conclusion, treatment of aHUS with eculizumab, even after long-term dialysis, can significantly improve renal function. Discontinuation of dialysis and resolution of cardiac function has implications on the potential recovery and treatment choice of such patients. Earlier initiation of eculizumab, however, might have prevented the irreversible renal sclerosis and cardiac dysfunction.
authors.affiliation: The AI Evdokimov Moscow State University of Medicine and Dentistry, Moscow, Russian Federation.
authors.forename: Khadizha
authors.initials: K
authors.lastname: Emirova
authors.affiliation: Department of Paediatric Nephrology, Radboud University Medical Center, Nijmegen, The Netherlands.
authors.forename: Elena
authors.initials: E
authors.lastname: Volokhina
authors.affiliation: Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen, The Netherlands.
authors.forename: Evgenia
authors.initials: E
authors.lastname: Tolstova
authors.affiliation: Department of Paediatric Nephrology, Radboud University Medical Center, Nijmegen, The Netherlands Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen, The Netherlands.
authors.forename: Bert
authors.initials: B
authors.lastname: van den Heuvel
mesh_terms: D061067:Antibodies, Monoclonal, Humanized / Q000627:therapeutic use*; D065766:Atypical Hemolytic Uremic Syndrome / Q000150:complications / Q000175:diagnosis / Q000188:drug therapy*; D009202:Cardiomyopathies / Q000209:etiology* / Q000628:therapy; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007223:Infant; D007668:Kidney / Q000473:pathology; D010956:Plasmapheresis; D051437:Renal Insufficiency / Q000209:etiology* / Q000473:pathology / Q000628:therapy
chemical_list: D061067:Antibodies, Monoclonal, Humanized; C481642:eculizumab