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Pediatric Nephrology
Erschienen in: Pediatric Nephrology 12/2010

01.12.2010 | Educational Review

Genetics and complement in atypical HUS

verfasst von: David Kavanagh, Tim Goodship

Erschienen in: Pediatric Nephrology | Ausgabe 12/2010

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Abstract

Central to the pathogenesis of atypical hemolytic uremic syndrome (aHUS) is over-activation of the alternative pathway of complement. Following the initial discovery of mutations in the complement regulatory protein, factor H, mutations have been described in factor I, membrane cofactor protein and thrombomodulin, which also result in decreased complement regulation. Autoantibodies to factor H have also been reported to impair complement regulation in aHUS. More recently, gain of function mutations in the complement components C3 and Factor B have been seen. This review focuses on the genetic causes of aHUS, their functional consequences, and clinical effect.
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Metadaten
Titel
Genetics and complement in atypical HUS
verfasst von
David Kavanagh
Tim Goodship
Publikationsdatum
01.12.2010
Verlag
Springer-Verlag
Erschienen in
Pediatric Nephrology / Ausgabe 12/2010
Print ISSN: 0931-041X
Elektronische ISSN: 1432-198X
DOI
https://doi.org/10.1007/s00467-010-1555-5

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Vitamin D deficiency and toxicity in chronic kidney disease: in search of the therapeutic window

Original Article

Long-term outcome of nephropathic cystinosis: a 20-year single-center experience

Original Article

Plasma levels of acylated and total ghrelin in pediatric patients with chronic kidney disease

Brief Report

Inherited renal tubular dysgenesis may not be universally fatal

Neu im Fachgebiet Pädiatrie

Embryotransfer erhöht womöglich Leukämierisiko der Kinder

13.05.2024 Assistierte Reproduktion Nachrichten

Reproduktionsmedizinische Techniken haben theoretisch das Potenzial, den epigenetischen Code zu verändern und somit das Krebsrisiko der Kinder zu erhöhen. Zwischen Embryotransfer und Leukämie scheint sich ein solcher Zusammenhang bestätigt zu haben.

Darf man die Behandlung eines Neonazis ablehnen?

08.05.2024 Gesellschaft Nachrichten

In einer Leseranfrage in der Zeitschrift Journal of the American Academy of Dermatology möchte ein anonymer Dermatologe bzw. eine anonyme Dermatologin wissen, ob er oder sie einen Patienten behandeln muss, der eine rassistische Tätowierung trägt.

Ein Drittel der jungen Ärztinnen und Ärzte erwägt abzuwandern

07.05.2024 Klinik aktuell Nachrichten

Extreme Arbeitsverdichtung und kaum Supervision: Dr. Andrea Martini, Sprecherin des Bündnisses Junge Ärztinnen und Ärzte (BJÄ) über den Frust des ärztlichen Nachwuchses und die Vorteile des Rucksack-Modells.

Häufigste Gründe für Brustschmerzen bei Kindern

06.05.2024 Pädiatrische Diagnostik Nachrichten

Akute Brustschmerzen sind ein Alarmsymptom par exellence, schließlich sind manche Auslöser lebensbedrohlich. Auch Kinder klagen oft über Schmerzen in der Brust. Ein Studienteam ist den Ursachen nachgegangen.

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