Diverse molecular causes of unsolved autosomal dominant tubulointerstitial kidney diseases

URN to cite this document:: urn:nbn:de:bvb:355-epub-530656
DOI to cite this document:: 10.5283/epub.53065

Wopperer, Florian J.

; Knaup, Karl X.

; Stanzick, Kira J. ; Schneider, Karen ; Jobst-Schwan, Tilman

; Ekici, Arif B.

; Uebe, Steffen ; Wenzel, Andrea ; Schliep, Stefan ; Schürfeld, Carsten ; Seitz, Randolf ; Bernhardt, Wanja ; Gödel, Markus ; Wiesener, Antje ; Popp, Bernt

; Stark, Klaus J. ; Gröne, Hermann-Josef ; Friedrich, Björn ; Weiß, Martin ; Basic-Jukic, Nikolina

; Schiffer, Mario ; Schröppel, Bernd ; Huettel, Bruno ; Beck, Bodo B. ; Sayer, John A.

; Ziegler, Christine ; Büttner-Herold, Maike ; Amann, Kerstin ; Heid, Iris M. ; Reis, André

; Pasutto, Francesca ; Wiesener, Michael S.

License: Creative Commons Attribution Non-commercial No Derivatives 4.0
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Date of publication of this fulltext: 20 Oct 2022 11:27

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Abstract

Autosomal Dominant Tubulointerstitial Kidney Disease (ADTKD) is caused by mutations in one of at least five genes and leads to kidney failure usually in mid adulthood. Throughout the literature, variable numbers of families have been reported, where no mutation can be found and therefore termed ADTKD-not otherwise specified. Here, we aim to clarify the genetic cause of their diseases in our ADTKD ...