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Nephrologie aktuell 2024; 28(06): 272-278
DOI: 10.1055/a-2270-5042
DOI: 10.1055/a-2270-5042
Schwerpunkt
Nephrologie
Primäre Hyperoxalurie
Aktuelle Standpunkte zur Pathogenese, Diagnostik und Therapie
ZUSAMMENFASSUNG
Die primäre Hyperoxalurie umfasst eine Gruppe seltener autosomal-rezessiv vererbter Stoffwechselerkrankungen. Sie werden durch Mutationen in Enzymen verursacht, die an der endogenen Oxalatsynthese beteiligt sind. Es gibt 3 primäre Hyperoxalurien: Typ 1, 2 und 3, die jeweils einen anderen Defekt vorweisen, der in einer Oxalatüberproduktion resultiert. Dies führt zur Kristallisation von Kalziumoxalat (CaOx), entweder in Form von Nieren- und Harnleitersteinen, Nephrokalzinose oder als systemische Oxalose. Aufgrund der Heterogenität der Symptome und der großen Altersspanne ist die Diagnose oft schwierig. Biochemische und genetische Untersuchungen sind erforderlich, um die Diagnose so früh wie möglich zu bestätigen. Dies ist essenziell, um eine angemessene Behandlung einzuleiten und die Prognose zu verbessern. Ziel dieser Übersicht ist es, einen Überblick über aktuelle Empfehlungen und Updates zur Behandlung der primären Hyperoxalurie zu geben.
Publication History
Article published online:
24 July 2024
© 2024. Thieme. All rights reserved.
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