Autosomal-dominante polyzystische NierenerkrankungManagement im Kindes- und Jugendalter

ZUSAMMENFASSUNG

Die autosomal-dominante polyzystische Nierenerkrankung (ADPKD) ist die häufigste genetische Ursache einer dialysepflichtigen chronischen Nierenerkrankung. Die ADPKD wird in den meisten Fällen durch Varianten in zwei Genen versursacht und ist typischerweise klinisch charakterisiert durch einen langsam fortschreitenden zystisch-fibrotischen Umbau der Nieren mit verschiedenen extrarenalen Manifestationen. Symptome werden oft erst im Erwachsenenalter bemerkt, der Prozess der Zystenbildung in der Niere beginnt aber bereits im Kindes- und Jugendalter. Für erwachsene Patienten mit rasch fortschreitender Erkrankung konnte eine erste zielgerichtete pharmakologische Therapie etabliert werden, welche allerdings mit substantiellen Nebenwirkungen einhergeht. Für Kinder- und Jugendärzte ist es daher wichtig, ein ausgewogenes Maß zwischen wachsamer Beobachtung und Diagnostik einer Erkrankung zu finden.

ABSTRACT

Autosomal dominant polycystick kidney disease (ADPKD) is the most common genetic cause of dialysis-requiring chronic kidney disease. ADPKD is typically caused by variants in two genes and is clinically characterized by a slowly progressive fibrocystic disease in the kidney and a variety of extrarenal manifestations. Clinical symptoms are frequently noticed in adulthood even though the process of cystogenesis starts in childhood and adolescence. For adult patients with rapidly progressing disease a first targeted pharmacological therapy has been established, but this therapy goes along with substantial side effects. For pediatricians it is important to find the right balance between watchful waiting and diagnostics in this important disease.

Schlüsselwörter

ADPKD - Zystennieren - genetische Nierenerkrankungen - Zilien - Registerstudien

Keywords

ADPKD - polycystic kidney disease - genetic kidney diseases - cilia - registry studies

Publication History

Received: 04 August 2020

Accepted: 13 August 2020

Article published online:
25 February 2021

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