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Genetisches Screening bei proteinurischen Nierenerkrankungen

Genetic screening in proteinuric renal diseases

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Der Nephrologe Aims and scope

Zusammenfassung

Hereditäre Formen von proteinurischen Nierenerkrankungen gewinnen zunehmend an Bedeutung im Hinblick auf Prognose und therapeutische Ansätze. Die Identifikation zahlreicher, meist im Podozyten angesiedelter Gene und Genprodukte, die für die Integrität und Funktionalität des glomerulären Filters von entscheidender Bedeutung sind, führte zur Bezeichnung der Podozytopathien. Aufgrund der genetisch determinierten, auf die Niere begrenzten Schädigung zeigen hereditäre Podozytopathien im Allgemeinen kein Ansprechen auf eine intensivierte immunsuppressive Therapie mit einem daraus resultierenden rascheren und häufigeren Fortschreiten hin zum terminalen Nierenversagen im Vergleich zu nichtgenetischen Formen. Nach einer Nierentransplantation allerdings wird bei nichtgenetischer FSGS eine signifikant höhere Rekurrenzrate (50%) mit nachfolgendem Transplantatverlust beobachtet. Klinisch relevante Entscheidungen z. B. hinsichtlich Therapiemöglichkeiten, Lebendspendenoptionen etc. machen das genetische Screening bei ausgewählten Erkrankungen unerlässlich.

Abstract

Hereditary forms of renal diseases with proteinuria or steroid-resistant nephrotic syndrome as the leading symptom are an evolving entity. The identification of numerous genes and gene products, mostly located in the podocyte, that are highly important for the integrity and functionality of the glomerular filtration barrier coined the term podocytopathy. Due to the genetic aspect and the exclusively renal localization hereditary podocytopathies in general show no response to an intensified immunosuppressive treatment with only few exceptions and as a consequence progress more frequently and faster to end-stage renal disease compared to non-genetic forms. After renal transplantation, however, non-genetic focal segmental glomerulosclerosis (FSGS) is associated with a 50 % risk of disease recurrence, which leads to a significantly higher graft loss. Decision-making regarding, for example the therapeutic options and the consulting for living-donor transplantation are dependent on the genetic background in certain diseases, which makes a genetic screening essential.

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  1. Pädiatrie I, Medizinische Universität Innsbruck, Anichstr. 35, 6020, Innsbruck, Österreich

    T. Jungraithmayr

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Jungraithmayr, T. Genetisches Screening bei proteinurischen Nierenerkrankungen. Nephrologe 8, 136–143 (2013). https://doi.org/10.1007/s11560-012-0691-2

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