Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

Autosomal dominante tubulointerstitielle Nierenerkrankung (ADTKD)

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.

Einteilung

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.

Gliederung

Interstitielle Nierenerkrankungen
Alström-Syndrom
Autosomal dominante tubulointerstitielle Nierenerkrankung (ADTKD)
HNF1B
MUC1
REN
SEC61A1
UMOD
Bardet-Biedl-Syndrom
Hyperuricämische Nephropathie
Karyomegale interstitielle Nephritis
Komplex medullärer Zystennierenerkrankungen

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OMIM.ORG article

Omim 174000 external link
Update: 14. August 2020
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