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Autosomal-dominante polyzystische Nierenerkrankung

Neue pathophysiologische und therapeutische Aspekte

Autosomal dominant polycystic kidney disease

New pathophysiological and therapeutic aspects

  • Leitthema
  • Published:
Der Nephrologe Aims and scope

Zusammenfassung

Hintergrund

Abhängig vom individuellen Risikoprofil weisen Patienten mit autosomal-dominanter polyzystischer Nierenerkrankung (ADPKD) ein unterschiedliches Risiko der Progression bis zum dialysepflichtigen Nierenversagen auf. Ziele dieser Übersicht sind eine Zusammenfassung aktueller Erkenntnisse aus Genetik und Pathophysiologie mit Relevanz für die individuelle Progression sowie die Bewertung aktuell verfügbarer Behandlungsmethoden bei ADPKD.

Methoden

Literaturrecherche zu Pathophysiologie und Therapie bei ADPKD.

Ergebnisse

Sowohl bei Diagnosestellung wie auch bei Abschätzung des Progressionsrisikos zur terminalen Niereninsuffizienz stellt die Bildgebung mittels Magnetresonanztomographie (MRT) das sensitivste Verfahren dar. Die Therapie beinhaltet als wesentliche Komponente eine strikte Blutdruckkontrolle mittels ACE („angiotensin-converting enzyme“)-Inhibition. Für ausgewählte Patienten im CKD (chronische Nierenerkrankung)-Stadium G1–G3 mit ungünstiger Prognose konnten unter Behandlung mit Tolvaptan eine Verlangsamung des Zystenwachstums wie auch ein verminderter eGFR (geschätzte glomeruläre Filtrationsrate)-Verlust nachgewiesen werden.

Diskussion

Neben unspezifischen Maßnahmen steht für Risikopatienten mit ADPKD mit Tolvaptan eine Therapie zur Progressionshemmung des Zystenwachstums und eGFR-Verlusts zur Verfügung.

Abstract

Background

Patients with autosomal dominant polycystic kidney disease (ADPKD) have a varying risk for progression to renal failure and the necessity for dialysis depending on the individual risk profile. This review summarizes the current knowledge on the genetics and pathophysiology relevant for individual disease progression and currently available treatment strategies for ADPKD are assessed.

Methods

Literature search for articles on the pathophysiology and treatment of ADPKD.

Results

Renal scanning with magnetic resonance imaging (MRI) represents the most sensitive tool for establishing both the diagnosis and prognosis for estimation of the risk of progression. Strict blood pressure control, preferably with angiotensin-converting enzyme (ACE) inhibitors, is the most crucial component of treatment. Selected patients with chronic kidney disease (CKD) stages I–III and a high probability of rapid progression to end-stage renal disease can benefit from treatment with tolvaptan, which has been shown to delay cyst growth and to reduce loss of the estimated glomerular filtration rate (eGFR).

Conclusion

In addition to non-specific treatment approaches, tolvaptan represents a treatment option for high risk ADPKD patients to inhibit progression of cyst growth and loss of eGFR.

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Authors and Affiliations

  1. Universitätsspital Zürich, Zürich, Schweiz

    R. Wüthrich

  2. Schwerpunkt Nephrologie – Standort Großhadern und Standort Innenstadt, Medizinische Klinik und Poliklinik IV München, Ziemssenstr. 1, 80366, München, Deutschland

    M. Fischereder

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Correspondence to M. Fischereder.

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Interessenkonflikt

R. Wüthrich war als Berater für die Firmen Amgen, Otsuka und Novartis tätig.

M. Fischereder war als Referent für die Firmen Novartis, Pfizer und Otsuka tätig. Er erhielt Drittmittelunterstützung der Fa. Pfizer und hält Aktien der Fa. Novartis.

Dieser Beitrag beinhaltet keine von den Autoren durchgeführten Studien an Menschen oder Tieren.

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J. Lutz, Mainz

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Wüthrich, R., Fischereder, M. Autosomal-dominante polyzystische Nierenerkrankung. Nephrologe 11, 268–274 (2016). https://doi.org/10.1007/s11560-016-0055-4

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  • DOI: https://doi.org/10.1007/s11560-016-0055-4

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