Article
Diverse molecular causes of unsolved autosomal dominant tubulointerstitial kidney diseases.
Kidney international - 1 Aug 2022
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
Abstract excerpt
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 registry....
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