title: [Hemolytic kidney failure and transient ischemic attack in a 32-year-old female].
abstract: We report on the case of a 32-year-old female patient who initially presented with oliguric acute renal failure, hemolytic anemia with moderate thrombocytopenia and subsequently developed a transient ischemic attack in the cerebellum. The kidney biopsy revealed clinically suspected atypical hemolytic-uremic syndrome (aHUS), which was confirmed by intraglomerular thrombotic microangiopathy (TMA). Treatment with plasmapheresis and sustained administration of the C5 inhibitor eculizumab resulted in hematological remission but without improvement of kidney function. Further etiological investigations led to reduced plasma levels of inhibitory complement factor I on the basis of a heterozygous CFI mutation. In patients with aHUS molecular genetic investigations are indicated in order to determine the underlying cause, to regulate the therapeutic regimen and to allow prognostic statements with respect to a potential kidney transplantation.
authors.affiliation: Department für Innere Medizin, Neurologie und Dermatologie, Klinik für Endokrinologie/Nephrologie, Universitätsklinikum Leipzig, Liebigstr. 20, 04103, Leipzig, Deutschland.
authors.forename: R
authors.initials: R
authors.lastname: Anders
authors.affiliation: Bioscientia, Zentrum für Humangenetik, Ingelheim, Deutschland.
authors.forename: M
authors.initials: M
authors.lastname: Grohmann
authors.affiliation: Department für Innere Medizin, Neurologie und Dermatologie, Klinik für Endokrinologie/Nephrologie, Universitätsklinikum Leipzig, Liebigstr. 20, 04103, Leipzig, Deutschland.
authors.forename: T H
authors.initials: TH
authors.lastname: Lindner
authors.affiliation: Bioscientia, Zentrum für Humangenetik, Ingelheim, Deutschland.
authors.forename: C
authors.initials: C
authors.lastname: Bergmann
authors.affiliation: Department für Innere Medizin, Neurologie und Dermatologie, Klinik für Endokrinologie/Nephrologie, Universitätsklinikum Leipzig, Liebigstr. 20, 04103, Leipzig, Deutschland. jan.halbritter@medizin.uni-leipzig.de.
authors.forename: J
authors.initials: J
authors.lastname: Halbritter
mesh_terms: D000328:Adult; D061067:Antibodies, Monoclonal, Humanized / Q000008:administration & dosage; D003131:Combined Modality Therapy / Q000379:methods; D003937:Diagnosis, Differential; D005260:Female; D006461:Hemolysis; D006463:Hemolytic-Uremic Syndrome / Q000097:blood / Q000175:diagnosis* / Q000628:therapy*; D006801:Humans; D002546:Ischemic Attack, Transient / Q000097:blood / Q000175:diagnosis* / Q000628:therapy*; D010956:Plasmapheresis; D051437:Renal Insufficiency / Q000097:blood / Q000175:diagnosis* / Q000628:therapy*; D016896:Treatment Outcome
chemical_list: D061067:Antibodies, Monoclonal, Humanized; C481642:eculizumab
keywords: Atypical hemolytic uremic syndrome; Complement pathway; Eculizumab; Kidney failure; Thrombotic microangiopathy