Die ADTKD ist eine autosomal dominante tubulointerstitielle Erkrankungen. Neben der dominanten Vererbung ist sie durch eine progressive tubulointerstitielle Schädigung gekennzeichnet. In der Folge kommt es zu Tubulusatrophie, Fibrose und einem Abfall der glomerulären Filtration. Eine Therapie ist bisher nicht bekannt.
Die Erkrankung wird in nunmehr 6 Typen unterteilt. Die Nomenklatur setzt sich aus ADTKD und dem Gensymbol zusammen. NOS wird für all die Formen verwendet, wo das Gen bisher nicht identifiziert werden konnte. Wir unterscheiden also derzeit ADTKD-HNF1B, -MUC1, -UMOD, -REN, -SEC61A1 und -NOS.
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OMIM.ORG article Omim 174000 |