Article
Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease due to mutations in UMOD and MUC1.
Kidney international - 1 Sept 2020
Olinger Eric, Hofmann Patrick, Kidd Kendrah, Dufour Inès, Belge Hendrica, Schaeffer Céline, Kipp Anne, Bonny Olivier, Deltas Constantinos, Demoulin Nathalie, Fehr Thomas, Fuster Daniel G, Gale Daniel P, Goffin Eric, Hodaňová Kateřina, Huynh-Do Uyen, Kistler Andreas, Morelle Johann, Papagregoriou Gregory, Pirson Yves, Sandford Richard, Sayer John A, Torra Roser, Venzin Christina, Venzin Reto, Vogt Bruno, Živná Martina, Greka Anna, Dahan Karin, Rampoldi Luca, Kmoch Stanislav, Bleyer Anthony J, Devuyst Olivier
Abstract excerpt
Autosomal dominant tubulointerstitial kidney disease (ADTKD) is an increasingly recognized cause of end-stage kidney disease, primarily due to mutations in UMOD and MUC1. The lack of clinical recognition and the small size of cohorts have slowed the understanding of disease ontology and development of diagnostic algorithms. We analyzed two registries from Europe and the United States to define genetic and...
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