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Der Nephrologe

, Volume 2, Issue 6, pp 459–468 | Cite as

Autosomal-dominante polyzystische Nierenerkrankung

  • A.L. SerraEmail author
  • R.P. Wüthrich
CME Weiterbildung • Zertifizierte Fortbildung
  • 106 Downloads

Zusammenfassung

Die autosomal-dominante polyzystische Nierenerkrankung („autosomal dominant polycystic kidney disease“, ADPKD) stellt die häufigste genetische Nierenerkrankung dar und ist eine der häufigsten menschlichen Erberkrankungen überhaupt. Sie wird in 85% der Fälle durch Mutationen im PKD1-Gen verursacht, welches für das ziliär gelegene Protein Polycystin-1 kodiert. Eine mildere Verlaufsform wird durch Mutationen im PKD2-Gen verursacht, letzteres kodiert für das einem Kalziumkanal ähnlichen Protein Polycystin-2. Die Erkrankung ist charakterisiert durch die progressive Entwicklung von unzähligen Zysten in beiden Nieren, welche das normale Nierengewebe sukzessive verdrängen und letztlich ersetzen. Dies führt über Jahrzehnte zu einem progressiven Funktionsverlust, welcher letztendlich mit Dialyseverfahren oder einer Nierentransplantation behandelt werden muss. Bisher standen neben der konservativen Überwachung und Begleittherapie der Komplikationen (Hypertonie, Zysteninfekte) keine kausalen Behandlungsmöglichkeiten zur Verfügung. Klinische Studien testen zurzeit die Wirksamkeit von viel versprechenden Medikamenten [Vasopressinrezeptor-2-Antagonisten (V2RA), „Mammalian-target-of-rapamycin-“ (mTOR-)Inhibitoren, Somatostatin] was dazu führen dürfte, dass diese schwere Erkrankung in den kommenden Jahren kausal therapiert werden kann.

Schlüsselwörter

Autosomal-dominante polyzystische Nierenerkrankung (ADPKD) Hypertonie Mammalian-target-of-rapamycin- (mTOR-)Inhibitoren Vasopressinrezeptor-2-Antagonisten (V2RA) Zystenblutung Zysteninfekt Zystennieren 

Autosomal dominant polycystic kidney disease

Abstract

Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic renal disease, and it is even one of the most common hereditary diseases in man. In 85% of the cases the disease is caused by mutations in the PKD1 gene, which encodes for the ciliary protein polycystin-1. A milder variant of the disease is caused by mutations in the PKD2 gene, which encodes for the calcium channel-related protein polycystin-2. The disease is characterized by the progressive development of innumerable cysts in both kidneys, which gradually replace the normal kidney tissue. In ADPKD patients the inexorable cyst growth leads to a progressive deterioration of renal function over decades, which ultimately can only be treated by renal replacement therapy or renal transplantation. Until now a causal treatment was not available, and treatment options were limited to regular clinical controls and treatment of complications (hypertension, cyst infections). Several promising clinical studies are currently examining new or even existing drugs as therapeutic options to retard cyst growth in ADPKD (vasopressin receptor-2 antagonists [V2RA], mammalian target of rapamycin [mTOR] inhibitors, somatostatin). It can be anticipated that ADPKD patients will benefit from these new treatment options in the near future.

Keywords

Autosomal dominant polycystic kidney disease (ADPKD) Hypertension Mammalian target of rapamycin (mTOR) inhibitors Vasopressin receptor-2 antagonists (V2RA) Cyst bleeding Cyst infection Cystic kidney disease 

Notes

Interessenkonflikt

Der korrespondierende Autor gibt an, dass kein Interessenkonflikt besteht.

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Copyright information

© Springer-Verlag 2007

Authors and Affiliations

  1. 1.Klinik für Nephrologie, UniversitätsspitalZürichSchweiz

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