Erkrankungen mit polyzystischer Nierenbeteiligung betreffen einen relevanten Anteil
der Patientenschaft in der pädiatrischen Nephrologie. Forschung mit klinischen Fragestellungen
auf dem Gebiet der seltenen und mitunter recht variabel verlaufenden autosomal-rezessiven
polyzystischen Nierenerkrankung (ARPKD: „autosomal recessive polycystic kidney disease“)
erfordert den Zusammenschluss (inter)nationaler betreuender Zentren. Dieser Zusammenschluss,
der mit einer europäischen Registerstudie zu ARPKD (ARegPKD) gelang, konnte die Grundlage
für eine Reihe von Arbeiten mit der Identifizierung von klinischen, sonografischen
und genetischen Risikomarkern bilden. Ein weiterer Schwerpunkt dieses Artikels liegt
auf den neuesten Empfehlungen zum Umgang mit Kindern und Jugendlichen mit positiver
Familienanamnese für autosomal-dominante polyzystische Nierenerkrankung (ADPKD: „autosomal
dominant polycystic kidney disease“). Hierbei müssen bei der Betreuung der Familien
sowohl das kindliche Recht auf adäquate medizinische Versorgung als auch das Recht
auf Nichtwissen berücksichtigt werden.
Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, Germany
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