Zystinurie - Zystinsteinleiden: Aktuelle Empfehlungen zur Diagnostik, Therapie und Nachsorge

Zusammenfassung

Die Zystinurie ist eine seltene hereditäre Erkrankung, welche zu rezidivierender Bildung von Zystinsteinen führt. Um eine progrediente Verschlechterung der Nierenfunktion durch intrarenale Steinmassen und wiederholte urologische Interventionen zu minimieren, sind regelmäßige Follow-up Untersuchungen und eine suffiziente Metaphylaxe notwendig. Beim Auftreten von behandlungsbedürftigen Konkrementen sollten wenig invasive Verfahren vorrangig eingesetzt werden, da sich diese Patienten während ihres Lebens mitunter multiplen Behandlungen unterziehen müssen. Diese Arbeit gibt, unter Berücksichtigung der aktuellen Literatur und den Richtlinien der Deutschen Gesellschaft für Urologie und der European Association of Urology, eine Übersicht zur Pathogenese, Diagnostik sowie Metaphylaxe und Therapie von Zystinurie und Zystinsteinen.

Abstract

Cystinuria, an autosomal-recessive disorder, is the cause of 1 - 2 % of all kidney stones observed in adults and about 10 % of those observed in infants. Despite increasing understanding of underlying pathomechanisms, patients still form recurrent stones and have to undergo repeated interventions with increasing risk of renal insufficiency. Dietary and medical metaphylaxis may lower the frequency of recurrent stones but are often not practiced. Regular follow-up examinations and optimal therapy significantly enlarge stone-free intervals. This review offers an overview of the underlying pathogenetic mechanisms as well as guidance for diagnosis, monitoring, metaphylaxis and therapy of cystinuria following the recommendations of the Deutsche Gesellschaft für Urologie (DGU) and the European Association of Urology (EAU).

Schlüsselwörter

Zystinurie - Metaphylaxe - Harnsteine

Key words

Cystinuria - urinary calculi - drug therapy

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